日本臨牀　別冊　腎臓症候群（第3版）II

出版社： 日本臨牀社
発行日： 2022-09-30
分野： 臨床医学：一般  >  雑誌
ISSN： 00471852
雑誌名：
特集： 腎臓症候群（第3版）II
電子書籍版： 2022-09-30 （第3版第1刷）
書籍・雑誌
≪全国送料無料でお届け≫
取寄せ目安：8～14営業日

22,000 円(税込)

購入する
電子書籍
章別単位で購入
ブラウザ、アプリ閲覧

22,000 円(税込)

購入する

目次

  • 特集　腎臓症候群（第3版）II
    　　　―その他の腎臓疾患を含めて―

    序　文

    VI．先天性・遺伝性腎疾患
    　１．遺伝性腎疾患
    　　（１）Alport症候群
    　　（２）Epstein症候群，Fechtner症候群
    　　（３）遺伝性血栓性血小板減少性紫斑病（Upshaw-Schulman症候群）
    　　（４）ミトコンドリア病
    　　（５）リポタンパク糸球体症
    　　（６）家族性LCAT欠損症
    　　（７）先天性ネフローゼ症候群
    　　（８）ネイルパテラ症候群/LMX1B関連腎症
    　　（９）補体制御因子障害と腎疾患
    　　（10）良性家族性血尿（菲薄基底膜症候群)
    　２．先天代謝異常
    　　（１）APRT欠損症
    　　（２）グルタル酸血症II型
    　　（３）Lesch-Nyhan症候群
    　　（４）Wilson病
    　　（５）遺伝性オロト酸尿症
    　　（６）キサンチン尿症
    　　（７）ペルオキシソーム病(Zellweger症候群、原発性高シュウ酸尿症1型)
    　　（８）遺伝性高チロシン血症［I型，II型，III型］
    　　（９）常染色体優性尿細管間質性腎疾患
    　　（10）筋グリコーゲン病
    　　（11）糖原病(Ⅰ型を中心に)
    　　（12）ライソゾーム病（ファブリー病以外）
    　３．先天奇形症候群
    　　（１）Alagille症候群
    　　（２）Denys-Drash症候群
    　　（３）Frasier症候群
    　　（４）Galloway-Mowat症候群(脳・腎糸球体異形成)
    　　（５）Jeune症候群
    　　（６）Prader-Willi症候群
    　　（７）Prune belly症候群
    　　（９）Cockayne症候群
    　　（10）チアノーゼ型先天性心疾患に伴う腎症(チアノーゼ腎症)
    　　（11）Kabuki症候群(新川‐黒木症候群，Kabuki make-up症候群)
    　　（12）過成長症候群
    　　（13）鰓耳腎症候群
    　　（14）腎コロボーマ症候群
    　４．形態・位置・数などの異常
    　　（１）位置の異常
    　　（２）過剰腎
    　　（３）腎回転異常、回転異常腎
    　　（４）巨大腎杯症
    　　（５）腎の形成異常(低形成・異形成腎を中心に)
    　　（６）形態異常：馬蹄腎・融合腎・その他の形態異
    　　（７）重複腎盂尿管，異所開口尿管
    　　（８）先天性水腎症
    　　（９）乳頭の異常：単乳頭腎
    　　（10）分節状腎低形成，Ask-Upmark 症候群

    VII．嚢胞性腎疾患
    　１．Alström 症候群
    　２．Bardet-Biedl症候群
    　３．Joubert症候群
    　４．Meckel症候群(MKS)
    　５．Oral-facial-digital[OFD]症候群1型
    　６．セニオール・ローケン症候群
    　７．von Hippel-Lindau(VHL)病
    　８．ネフロン癆
    　９．有馬症候群(脳-眼-肝-腎症候群)
    　10．結節性硬化症
    　11．髄質海綿腎
    　12．後天性腎嚢胞(多嚢胞化萎縮腎，萎縮性腎嚢胞)
    　13．出血性腎嚢胞
    　14．常染色体優性多発性嚢胞腎，常染色体劣性多発性嚢胞腎
    　15．腎周囲偽性嚢胞(ユリノーマ)
    　16．腎杯周囲リンパ管拡張症・腎洞性嚢胞
    　17．腎杯周囲嚢胞，傍腎盂嚢胞
    　18．腎杯憩室
    　19．髄質嚢胞腎
    　20．多嚢胞性異形成腎

    VIII．腫瘍性腎疾患
    　１．嫌色素性腎細胞癌
    　２．後天性腎嚢胞にみられる腎腫瘍―後天性嚢胞腎症随伴腎細胞癌―
    　３．腎明細胞肉腫
    　４．腎オンコサイトーマ
    　５．Wilms腫瘍（腎芽腫）
    　６．腎偽性腫瘍
    　７．腎血管筋脂肪腫
    　８．腎細胞癌
    　９．腎脂肪肉腫，腎脂肪腫，腎脂肪症
    　10．腎髄質間質細胞腫(腎髄質線維腫)
    　11．腎腺腫（乳頭状腺腫，後腎性腺腫）
    　12． 腎平滑筋肉腫、腎平滑筋腫
    　13．腎盂・尿管癌
    　14．先天性中胚葉性腎腫（先天性間葉芽腎腫）
    　15．多房性腎嚢胞・多房性嚢胞性腎腫
    　16．中腎腫瘍，中腎癌
    　17．傍糸球体細胞腫

この書籍の参考文献

参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。

本参考文献は電子書籍掲載内容を元にしております。

VI 先天性・遺伝性腎疾患

P.9 掲載の参考文献
1) Nozu K, et al : A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol 23 : 158-168, 2019.
PubMed
2) Kashtan CE, et al : Alport syndrome : a unified classification of genetic disorders of collagen IV α345 : a position paper of the Alport Syndrome Classification Working Group. Kidney Int 93 : 1045-1051, 2018.
 
3) アルポート症候群診療ガイドライン 2017 (日本小児腎臓病学会編), 診断と治療社, 2017.
 
4) Nakanishi K, et al : Immunohistochemical study of α1-5 chains of type IV collagen in hereditary nephritis. Kidney Int 46 : 1413-1421, 1994.
 
5) Hashimura Y, et al : Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain. Kidney Int 85 : 1208-1213, 2014.
 
6) Yamamura T, et al : Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome. Kidney Int 98 : 1605-1614, 2020.
PubMed
7) Yamamura T, et al : Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome. Kidney Int Rep 2 : 850-855, 2017.
PubMed
8) Oka M, et al : Natural history of genetically proven autosomal recessive Alport syndrome. Pediatr Nephrol 29 : 1535-1544, 2014.
PubMed
9) Kamiyoshi N, et al : Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. Clin J Am Soc Nephrol 11 : 1441-1449, 2016.
PubMed
P.14 掲載の参考文献
1) Epstein CJ, et al : Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 52 : 299-310, 1972.
PubMed
2) Peterson LC, et al : Fechtner syndrome-a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 65 : 397-406, 1985.
PubMed
3) May R : Leukozyteneinschlusse. Dtsch Arch Klin Med 96 : 1-6, 1909.
 
4) Hegglin R : Simultaneous Constitutional Changes In Neutrophils and Platelets. Helv Med Acta 12 : 439, 1945.
PubMed
5) Greinacher A, et al : Sebastian platelet syndrome : a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut 61 : 282-288, 1990.
PubMed
6) Kelley MJ, et al : Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 26 : 106-108, 2000.
PubMed
7) Seri M, et al : Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet 26 : 103-105, 2000.
PubMed
8) Kunishima S, et al : Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 97 : 1147-1149, 2001.
PubMed
9) Heath KE, et al : Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias : May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 69 : 1033-1045, 2001.
PubMed
10) Kunishima S, et al : Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet 46 : 722-729, 2001.
PubMed
11) Seri M, et al : MYH9-related disease : May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 82 : 203-215, 2003.
 
12) 國島伸治 : Epstein症候群. 別冊日本臨牀新領域別症候群シリーズ No.22 血液症候群 (第2版) II, p372-374, 2013.
 
13) Savoia A, et al : Heavy chain myosin 9-related disease (MYH9-RD) : neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost 103 : 826-832, 2010.
PubMed
14) Pecci A, et al : MYH9 : Structure, functions and role of non-muscle myosin IIA in human disease. Gene 664 : 152-167, 2018.
PubMed
15) Savoia A, Pecci A : MYH9-related disease. In : GeneReviews(R) [Internet] (ed by Adam MP, et al), Seattle (WA) : University of Washington, Seattle ; 1993-2022, 2008 (updated 2021).
 
16) Noris P, et al : Platelet diameters in inherited thrombocytopenias : analysis of 376 patients with all known disorders. Blood 124 : e4-e10, 2014.
PubMed
17) Kunishima S, et al : Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur J Haematol 78 : 220-226, 2007.
PubMed
18) Sekine T, et al : Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int 78 : 207-214, 2010.
PubMed
19) Pecci A, et al : MYH9-related disease : a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 35 : 236-247, 2014.
PubMed
20) Miura K, et al : Podocyte expression of nonmuscle myosin heavy chain-IIA decreases in idiopathic nephrotic syndrome, especially in focal segmental glomerulosclerosis. Nephrol Dial Transplant 28 : 2993-3003, 2013.
PubMed
21) Johnstone DB, et al : Podocyte-specific deletion of Myh9 encoding nonmuscle myosin heavy chain 2A predisposes mice to glomerulopathy. Mol Cell Biol 31 : 2162-2170, 2011.
PubMed
22) Suzuki N, et al : Establishment of mouse model of MYH9 disorders : heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. PLoS One 8 : e71187, 2013.
PubMed
23) Verver EJ, et al : Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. Ear Hear 37 : 112-120, 2016.
PubMed
24) 難病情報センター : エプスタイン症候群 (指定難病287). [www.nanbyou.or.jp/entry/4652]
 
25) Hashimoto J, et al : Successful Kidney Transplantation in Epstein Syndrome With Antiplatelet Antibodies and Donor-specific Antibodies : A Case Report. Transplant Proc 47 : 2541-2543, 2015.
PubMed
26) Pecci A, et al : Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 116 : 5832-5837, 2010.
PubMed
27) Zaninetti C, et al : Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia. Am J Hematol 94 : E199-E201, 2019.
PubMed
P.20 掲載の参考文献
1) Moake JL : Thrombotic thrombocytopenic purpura : the systemic clumping "plague". Annu Rev Med 53 : 75-88, 2002.
PubMed
2) 松本雅則, ほか : 血栓性血小板減少性紫斑病 (TTP) 診療ガイド 2017. 臨床血液 58 : 271-281, 2017.
 
3) Kokame K, et al : Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome. J Thromb Haemost 9 : 1654-1656, 2011.
PubMed
4) Joly BS, et al : Thrombotic thrombocytopenic purpura. Blood 129 : 2836-2846, 2017.
PubMed
5) Levy GG, et al : Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413 : 488-494, 2001.
 
6) Kasper CK, Pool JG : Letter : Measurement of mild factor VIII inhibitors in Bethesda units. Thromb Diath Haemorrh 34 : 875-876, 1975.
PubMed
7) Kokame K, et al : Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci U S A 99 : 11902-11907, 2002.
PubMed
8) Kremer Hovinga JA, George JN : Hereditary Thrombotic Thrombocytopenic Purpura. N Engl J Med 381 : 1653-1662, 2019.
PubMed
9) Zheng XL, et al : ISTH guidelines for treatment of thrombotic thrombocytopenic purpura. J Thromb Haemost 18 : 2496-2502, 2020.
PubMed
10) Scully M, et al : Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies. Br J Haematol 158 : 323-335, 2012.
PubMed
11) Sakai K, et al : Success and limitations of plasma treatment in pregnant women with congenital thrombotic thrombocytopenic purpura. J Thromb Haemost 18 : 2929-2941, 2020.
PubMed
12) Yoshida Y, et al : Severe reduction of free-form ADAMTS13, unbound to von Willebrand factor, in plasma of patients with HELLP syndrome. Blood Adv 1 : 1628-1631, 2017.
 
13) Pequeriaux NC, et al : Plasma concentration of von Willebrand factor predicts mortality in patients on chronic renal replacement therapy. Nephrol Dial Transplant 27 : 2452-2457, 2012.
PubMed
14) Ocak G, et al : Von Willebrand factor, ADAMTS13 and mortality in dialysis patients. BMC Nephrol 22 : 222, 2021.
PubMed
15) Itami H, et al : Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome. Thromb Res 170 : 148-155, 2018.
 
P.25 掲載の参考文献
1) Russell OM, et al : Mitochondrial Diseases : Hope for the Future. Cell 181 : 168-188, 2020.
PubMed
2) Koopman WJ, et al : Monogenic mitochondrial disorders. N Engl J Med 366 : 1132-1141, 2012.
PubMed
3) ミトコンドリア病診療マニュアル作成委員会 : ミトコンドリア病診療マニュアル 2017 (日本ミトコンドリア学会編), 診断と治療社, 2016.
 
4) Imasawa T, et al : Clinicopathologic Features of Mitochondrial Nephropathy. Kidney Int Rep 7 : 580-590, 2022.
PubMed
5) Ibayashi K, et al : Estimation of the number of patients with mitochondrial diseases : A descriptive study using a nationwide database in Japan. J Epidemiol, 2021. (DOI : 10.2188/jea.JE20200577)
 
6) Massin P, et al : Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case-control study. Diabetologia 51 : 1664-1670, 2008.
PubMed
7) Hall AM, et al : The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney Int 87 : 610-622, 2015.
PubMed
8) Imasawa T, Rossignol R : Podocyte energy metabolism and glomerular diseases. Int J Biochem Cell Biol 45 : 2109-2118, 2013.
PubMed
9) Imasawa T, Murayama K : Response to "The Spectrum of Renal Abnormalities in Mitochondrial Disorders is Broad". Kidney Int Rep, 2022. (DOI : 10.1016/j.ekir.2022.05.015)
 
10) Mochizuki H, et al : Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis. Clin Nephrol 46 : 347-352, 1996.
PubMed
11) Kobayashi A, et al : Granular swollen epithelial cells : a histologic and diagnostic marker for mitochondrial nephropathy. Am J Surg Pathol 34 : 262-270, 2010.
PubMed
12) Maeoka Y, et al : A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes. BMC Nephrol 21 : 376, 2020.
PubMed
13) Santos R, et al : Iatrogenic arteriovenous fistula with right-sided heart failure. Eur Heart J Case Rep 5 : ytab021, 2021.
PubMed
14) Ohsawa Y, et al : Taurine supplementation for prevention of stroke-like episodes in MELAS : a multicentre, open-label, 52-week phase III trial. J Neurol Neurosurg Psychiatry 90 : 529-536, 2019.
 
15) Korkmaz E, et al : ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. J Am Soc Nephrol 27 : 63-68, 2016.
PubMed
P.29 掲載の参考文献
1) Saito T, et al : Lipoprotein glomerulopathy : glomerular lipoprotein thrombi in a patient with hyperlipoproteinemia. Am J Kidney Dis 13 : 148-153, 1989.
 
2) Oikawa S, et al : Apolipoprotein E Sendai (arginine 145 → proline) : a new variant associated with lipoprotein glomerulopathy. J Am Soc Nephrol 8 : 820-823, 1997.
 
3) 斉藤喬雄 : リポ蛋白糸球体症. 腎臓内科・泌尿器科 4 : 570-577, 2016.
 
4) Li M et al : An updated review and meta analysis of lipoprotein glomerulopathy. Front Med (Lausanne) 9 : 905007, 2022.
PubMed
5) Song Y, et al : Case Report : A Pediatric Case of Lipoprotein Glomerulopathy in China and Literature Review. Front Pediatr 9 : 684814, 2021.
PubMed
6) Hu Z, et al : Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation. Kidney Int 85 : 416-424, 2014.
PubMed
7) Toyota K, et al : A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy. J Hum Genet 58 : 254-258, 2013.
PubMed
8) Mochizuki S, et al : Significance of fat stains in serial sections from Epon-embedded tissue samples for electron microscopy in renal diseases. Clin Exp Nephrol 5 : 240-245, 2001.
 
9) Saito T, et al : Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases. Am J Kidney Dis 47 : 199-211, 2006.
 
10) Saito T, et al : Apolipoprotein E-related glomerular disorders. Kidney Int 97 : 279-288, 2020.
PubMed
11) 斉藤喬雄, ほか : アポ蛋白E関連糸球体疾患. 腎臓内科 12 : 481-489, 2020.
 
12) Kanamaru Y, et al : Chronic graft-versus-host autoimmune disease in Fc receptor gamma chaindeficient mice results in lipoprotein glomerulopathy. J Am Soc Nephrol 13 : 1527-1533, 2002.
PubMed
13) Ito K, et al : Macrophage impairment produced by Fc receptor gamma deficiency plays a principal role in the development of lipoprotein glomerulopathy in concert with apoE abnormalities. Nephrol Dial Transplant 27 : 3899-3907, 2012.
 
14) Russi G, et al : Lipoprotein glomerulopathy treated with LDL-apheresis (Heparin-induced Extracorporeal Lipoprotein Precipitation system) : a case report. J Med Case Rep 3 : 9311, 2009.
PubMed
15) Xin Z, et al : Successful treatment of patients with lipoprotein glomerulopathy by protein A immunoadsorption : a pilot study. Nephrol Dial Transplant 24 : 864-869, 2009.
PubMed
P.35 掲載の参考文献
1) Calabresi L, et al : Genetic lecithin : cholesterol acyltransferase deficiency and cardiovascular disease. Atherosclerosis 222 : 229-306, 2011.
 
2) Kuroda M, et al : Current Status of Familial LCAT Deficiency in Japan. J Atheroscler Thromb 28 : 679-691, 2021.
PubMed
3) Teisberg P, et al : Genetics of LCAT (lecithin : cholesterol acyltransferase) deficiency. Ann Hum Genet 38 : 327-331, 1975.
PubMed
4) Vitali C, et al : A systematic review of the natural history and biomarkers of primary lecithin : cholesterol acyltransferase deficiency. J Lipid Res 63 : 100169, 2022.
PubMed
5) Naito S, et al : Amelioration of circulating lipoprotein profile and proteinuria in a patient with LCAT deficiency due to a novel mutation (Cys74Tyr) in the lid region of LCAT under a fat-restricted diet and ARB treatment. Atherosclerosis 228 : 193-197, 2013.
 
6) Holleboom AG, et al : Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin : cholesterol acyl transferase. Atherosclerosis 216 : 161-165, 2011.
PubMed
7) Yee MS, et al : Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy. Atherosclerosis 205 : 528-532, 2009.
PubMed
8) Aranda P, et al : Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs). Clin Nephrol 69 : 213-218, 2008.
PubMed
9) Miarka P, et al : Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency. Clin Exp Nephrol 15 : 424-429, 2011.
 
10) Shamburek RD, et al : Familial lecithin : cholesterol acyltransferase deficiency : First-in-human treatment with enzyme replacement. J Clin Lipidol 10 : 356-367, 2016.
PubMed
11) Kuroda M, et al : A Novel Approach to the Treatment of Plasma Protein Deficiency : Ex Vivo-Manipulated Adipocytes for Sustained Secretion of Therapeutic Proteins. Chem Pharm Bull (Tokyo) 66 : 217-224, 2018.
 
12) Ahmad SB, et al : Sequential kidney-liver transplantation from the same living donor for lecithin cholesterol acyl transferase deficiency. Clin Transplant 30 : 1370-1374, 2016.
PubMed
P.40 掲載の参考文献
1) Jalanko H, Holmberg C : Congenital nephrotic syndrome. In : Pediatric Nephrology, 7th ed, (ed by Avner ED, et al), p753-776, Springer, Heidelberg, 2016.
 
2) Kestila M, et al : Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1 : 575-582, 1998.
PubMed
3) Patrakka J, et al : Congenital nephrotic syndrome (NPHS1) : features resulting from different mutations in Finnish patients. Kidney Int 58 : 972-980, 2000.
PubMed
4) Machuca E, et al : Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol 21 : 1209-1217, 2010.
PubMed
5) Nagano C, et al : Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep 10 : 270, 2020.
PubMed
6) Holmberg C, et al : Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 9 : 87-93, 1995.
PubMed
7) Holtta T, et al : Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1 : data from the ESPN/ERA-EDTA Registry. Pediatr Nephrol 31 : 2317-2325, 2016.
 
8) Kim MS, et al : Renal transplantation in children with congenital nephrotic syndrome : a report of the North American Pediatric Renal Transplant Cooperative Study (NAPRTCS). Pediatr Transplant 2 : 305-308, 1998.
PubMed
9) Patrakka J, et al : Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type : role of nephrin. Tranplantation 73 : 394-403, 2002.
 
10) Dufek S, et al : Management of children with congenital nephrotic syndrome : challenging treatment paradigms. Nephrol Dial Transplant 34 : 1369-1377, 2019.
PubMed
11) 長澤武, ほか : 片側固有腎摘出と腹膜透析を経て腎移植を行ったフィンランド型先天性ネフローゼ症候群. 日本小児科学会雑誌 125 : 42-47, 2021.
 
P.45 掲載の参考文献
1) Dreyer SD, et al : Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 19 : 47-50, 1998.
 
2) Ghoumid J, et al : Nail-Patella Syndrome : clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet 24 : 44-50, 2016.
PubMed
3) Harita Y, et al : Spectrum of LMX1B mutations : from nail-patella syndrome to isolated nephropathy. Pediatr Nephrol 32 : 1845-1850, 2017.
PubMed
4) Isojima T, et al : LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. Nephrol Dial Transplant 29 : 81-88, 2014.
PubMed
5) Bongers EM, et al : Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 13 : 935-946, 2005.
PubMed
6) Harita Y, et al : Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome. Eur J Hum Genet 28 : 1414-1421, 2020.
PubMed
7) Morello R, Lee B : Insight into podocyte differentiation from the study of human genetic disease : nail-patella syndrome and transcriptional regulation in podocytes. Pediatr Res 51 : 551-558, 2002.
 
8) Chen H, et al : Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 19 : 51-55, 1998.
 
9) Morello R, et al : Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 27 : 205-208, 2001.
PubMed
10) Miner JH, et al : Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest 109 : 1065-1072, 2002.
PubMed
11) He B, et al : Lmx1b and FoxC combinatorially regulate podocin expression in podocytes. J Am Soc Nephrol 25 : 2764-2777, 2014.
PubMed
12) Suleiman H, et al : The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes. Dev Biol 304 : 701-712, 2007.
PubMed
13) Heidet L, et al : In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. Am J Pathol 163 : 145-155, 2003.
PubMed
14) Konomoto T, et al : Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. Nephrology (Carlton) 21 : 765-773, 2016.
PubMed
15) Nakata T, et al : Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome : a case of a de novo LMX1B mutation. BMC Nephrol 18 : 100, 2017.
 
16) Bongers EM, et al : Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol 17 : 703-712, 2002.
PubMed
17) Lei L, et al : Myelin bodies in LMX1B-associated nephropathy : potential for misdiagnosis. Pediatr Nephrol 35 : 1647-1657, 2020.
PubMed
18) Pinto E Vairo F, et al : Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy : a case report. BMC Nephrol 21 : 341, 2020.
PubMed
19) Shimohata H, et al : LMX1B-associated nephropathy that showed myelin figures on electron microscopy. CEN Case Rep 10 : 588-591, 2021.
PubMed
20) Bongers EM, et al : Identification of entire LMX1B gene deletions in nail patella syndrome : evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet 16 : 1240-1244, 2008.
PubMed
21) Haro E, et al : Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity. Nat Commun 12 : 5533, 2021.
PubMed
22) Lemley KV : Kidney disease in nail-patella syndrome. Pediatr Nephrol 24 : 2345-2354, 2009.
PubMed
P.50 掲載の参考文献
1) Nonaka M, Kimura A : Genomic view of the evolution of the complement system. Immunogenetics 58 : 701-713, 2006.
PubMed
2) Gunn WC : The variation in the amount of complement in the blood in some acute infectious diseases and its relation to the clinical features. J Pathol Bacteriol 19 : 155-181, 1915.
 
3) Spitzer RE, et al : Serum C'3 lytic system in patients with glomerulonephritis. Science 164 : 436-437, 1969.
 
4) Matsuo S, et al : Complement mediated renal injury : mechanisms and role of membrane regulators of complement. Clin Exp Nephrol 2 : 276-281, 1998.
 
5) Nangaku M : Complement regulatory proteins in glomerular diseases. Kidney Int 54 : 1419-1428, 1998.
PubMed
6) Mizuno M, Morgan BP : The possibilities and pitfalls for anti-complement therapies in inflammatory diseases. Curr Drug Targets Inflamm Allergy 3 : 87-96, 2004.
PubMed
7) Wada T, Nangaku M : Novel roles of complement in renal diseases and their therapeutic consequences. Kidney Int 84 : 441-450, 2013.
PubMed
8) 澤井俊宏, ほか : エクリズマブによるaHUS治療. 日本腎臓学会誌 56 : 1090-1096, 2014.
 
9) Kato H, et al : Safety and effectiveness of eculizumab for adult patients with atypical hemolyticuremic syndrome in Japan : interim analysis of post-marketing surveillance. Clin Exp Nephrol 23 : 65-75, 2019.
 
10) Ito S, et al : Safety and effectiveness of eculizumab for pediatric patients with atypical hemolyticuremic syndrome in Japan : interim analysis of post-marketing surveillance. Clin Exp Nephrol 23 : 112-121, 2019.
 
11) Harris CL, et al : Developments in anti-complement therapy ; from disease to clinical trial. Mol Immunol 102 : 89-119, 2018.
PubMed
12) 補体への招待 (大井洋之, ほか編). メジカルビュー社, 2011.
 
13) Mizuno M, et al : Complement regulation and kidney diseases : recent knowledge of the double-edged roles of complement activation in nephrology. Clin Exp Nephrol 22 : 3-14, 2018.
PubMed
14) Zipfel PF, et al : CFHR Gene Variations Provide Insights in the Pathogenesis of the Kidney Diseases Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. J Am Soc Nephrol 31 : 241-256, 2020.
PubMed
15) Pickering MC, et al : Uncontrolled C3 activation causes membranoproliferative glomeruloneph-ritis in mice deficient in complement factor H. Nat Genet 31 : 424-428, 2002.
 
16) Williams AL, et al : C5 inhibition prevents renal failure in a mouse model of lethal C3 glomerulopathy. Kidney Int 91 : 1386-1397, 2017.
 
17) Togarsimalemath SK, et al : A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy. Kidney Int 92 : 876-887, 2017.
PubMed
18) Osborne AJ, et al : Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. J Immunol 200 : 2464-2478, 2018.
PubMed
19) Suzuki H, et al : The pathophysiology of IgA nephropathy. J Am Soc Nephrol 22 : 1795-1803, 2011.
PubMed
20) Sadallah S, et al : Glomerulonephritis in a patient with complement factor I deficiency. Am J Kidney Dis 33 : 1153-1157, 1999.
 
21) Matsuo S, et al : Proteinuria and damage to tubular cells-is complement a culprit? Nephrol Dial Transplant 13 : 2723-2726, 1998.
PubMed
P.55 掲載の参考文献
1) 中西浩一, 吉川徳茂 : Alport症候群. 日本腎臓学会誌 57 : 736-742, 2015.
 
2) Tryggvason K, Patrakka J : Thin basement membrane nephropathy. J Am Soc Nephrol 17 : 813-822, 2006.
PubMed
3) Savige J, et al : Thin basement membrane nephropathy. Kidney Int 64 : 1169-1178, 2003.
PubMed
4) Buzza M, et al : Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Kidney Int 59 : 1670-1676, 2001.
PubMed
5) Collar JE, et al : Red cell traverse through thin glomerular basement membranes. Kidney Int 59 : 2069-2072, 2001.
PubMed
6) Abe S, et al : Thin basement membrane syndrome in adults. J Clin Pathol 40 : 318-322, 1987.
PubMed
7) Vogler C, et al : Glomerular basement membrane and lamina densa in infants and children : an ultrastructural evaluation. Pediatr Pathol 7 : 527-534, 1987.
PubMed
8) 血尿診断ガイドライン 2013 (血尿診断ガイドライン編集委員会, ほか編), p34-36, ライフサイエンス出版, 2013.
 
9) 御手洗哲也, ほか : 血尿の臨床的・疫学的背景 : 画像診断に進む前に. 臨床画像 26 : 598-601, 2010.
Medical*Online
10) Piqueras AI, et al : Renal biopsy diagnosis in children presenting with haematuria. Pediatr Nephrol 12 : 386-391, 1998.
PubMed
11) Deltas C, et al : Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant 28 : 2946-2960, 2013.
PubMed
12) Voskarides K, et al : COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol 18 : 3004-3016, 2007.
PubMed
13) Voskarides K, et al : A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. PLoS One 12 : e0174274, 2017.
PubMed
14) Stefanou C, et al : Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. Nephron 130 : 200-212, 2015.
PubMed
15) Temme J, et al : Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. Kidney Int 81 : 779-783, 2012.
PubMed
P.60 掲載の参考文献
1) Simmonds HA, et al : Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine lithiasis. In : The Metabolic and Molecular Bases of Inherited Disease, 7th ed (ed by Scriver CR, et al), p1707-1724, McGraw-Hill, New York, 1995.
 
2) Cartier P, et al : A new metabolic disease : the complete deficit of adenine phosphoribosyltrans-ferase and lithiasis of 2, 8-dihydroxyadenine. C R Acad Hebd Seances Acad Sci D 279 : 883-886, 1974.
 
3) Kamatani N, et al : Distribution of patients with 2, 8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. J Urol 140 : 1470-1472, 1988.
PubMed
4) Kamatani N, et al : Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. J Clin Invest 90 : 131-135, 1992.
 
5) 鎌谷直之 : アデニンホスホリボシルトランスフェラーゼ (APRT) 欠損症. 腎と透析 42 : 301-304, 1997.
 
6) 鎌谷直之 : アデニンホスホリボシルトランスフェラーゼ (APRT). 日本臨牀 54 : 3213-3219, 1996.
Medical*Online
7) Kamatani N, et al : Purine and pyrimidine metabolism. In : Emery and Rimoin's Principles and Practice of Medical Genetics (ed by Rimoin DLZ, et al), p2222-2246, Elsevier, 2007.
 
8) Hidaka Y, et al : Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. J Clin Invest 81 : 945-950, 1988.
 
9) Kamatani N, et al : Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase. Metabolism 34 : 164-168, 1985.
PubMed
10) Mimori A, et al : A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. Am J Hum Genet 48 : 102-107, 1991.
 
11) Edvardsson VO, et al : Adenine Phosphoribosyltransferase Deficiency. In : GeneReviews (ed by Adam MP, et al), Seattle (WA) : University of Washington, Seattle, 1993.
 
12) Nanmoku K, et al : Febuxostat for the Prevention of Recurrent 2, 8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. Intern Med 56 : 1387-1391, 2017.
PubMed
13) 奥村雄三 : 健診尿中に2, 8-DHA結晶がみられたAPRT欠損症の1例. 人間ドック 34 : 506-511, 2019.
Medical*Online
14) 鎌谷直之 : アデニンホスホリボシルトランスフェラーゼ (APRT) 欠損症. 日本臨牀 51 (増刊 : 本邦臨床統計集) : 1087-1095, 1993.
 
15) 久原とみ子, 大瀬守眞 : アデニンフォスホリボシルトランスフェラーゼ欠損症の診断のガイドラインに関する考察-GC/MS-尿メタボロミクスを診断の入り口と確定診断に-. 痛風と尿酸・核酸 44 : 167-176, 2020.
 
16) Hakoda M, et al : Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells : Application to screening of heterozygotes. Am J Hum Genet 48 : 522-562, 1991.
 
17) Edvardsson VO, et al : Comparison of the effect of allopurinol and febuxostat on urinary 2, 8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd) : A clinical trial. Eur J Intern Med 48 : 75-79, 2018.
PubMed
P.65 掲載の参考文献
1) Frerman FE, Goodman SI : Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase : Glutaric Acidemia Type II. In : The Online Metabolic and Molecular Bases of Inherited Disease (ed by Valle DL, et al), 8th ed, McGraw-Hill, New York, 2001.
 
2) Yamaguchi S, et al : Expanded newborn mass screening with MS/MS and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in Japan. 日本マススクリーニング学会誌 23 : 270-276, 2013.
 
3) Yotsumoto Y, et al : Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab 94 : 61-67, 2008.
PubMed
4) グルタル酸血症2型 (複合アシルCoA 脱水素酵素欠損症). 新生児マススクリーニング対象疾患等診療ガイドライン 2019 (日本先天代謝異常学会編), p274-285, 診断と治療社, 2019.
 
5) 山田健治, 山口清次 : 有機酸・脂肪酸代謝異常グルタル酸血症II型 (マルチプルアシル-CoA脱水素酵素欠損症). 別冊日本臨牀新領域別症候群シリーズ No. 19 先天代謝異常症候群 (第2版) (上), p421-425, 日本臨牀社, 2012.
 
6) 特殊ミルク共同安全開発委員会 (編) : グルタル酸血症2型. タンデムマス導入に伴う新しいスクリーニング対象疾患の治療指針, 特殊ミルク情報 第42号別冊, p25, 34, 2007.
 
7) Chisholm CA, et al : Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency : association with elevated alpha-fetoprotein and cystic renal changes. Prenat Diagn 21 : 856-859, 2001.
PubMed
8) 虫本雄一 : グルタル酸血症II型. 有機酸代謝異常ガイドブック (山口清次編), p72-73, 診断と治療社, 2011.
 
9) Endo M, et al : In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2. J Chromatogr B Analyt Technol Biomed Life Sci 878 : 1673-1676, 2010.
PubMed
10) Goodman SI, et al : Glutaric aciduria ; a "new" disorder of amino acid metabolism. Biochem Med 12 : 12-21, 1975.
PubMed
11) Harpey JP, et al : Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy : Value of riboflavin therapy in preventing this syndrome. J Pediatr 103 : 394-398, 1983.
PubMed
P.68 掲載の参考文献
1) Torres RJ, Puig JG : Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency : Lesch-Nyhan syndrome. Orphanet J Rare Dis 2 : 48, 2007.
PubMed
2) Fu R, et al : Genotype-phenotype correlations in neurogenetics : Lesch-Nyhan disease as a model disorder. Brain 137 : 1282-1303, 2014.
 
3) Madeo A, et al : Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency. Mol Genet Metab 127 : 147-157, 2019.
PubMed
4) Mishima E, et al : HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout. CEN Case Rep 9 : 210-214, 2020.
 
5) Wong H, et al : Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure. Pediatr Nephrol 23 : 317-321, 2008.
 
6) Ernst M, et al : Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med 334 : 1568-1572, 1996.
PubMed
7) Kang TH, et al : The housekeeping gene hypoxanthine guanine phosphoribosyltransferase (HPRT) regulates multiple developmental and metabolic pathways of murine embryonic stem cell neuronal differentiation. PLoS One 8 : e74967, 2013.
PubMed
8) Rinat C, et al : Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. Mol Genet Metab 87 : 249-252, 2006.
PubMed
9) Lesch-Nyhan Disease International Study Group. [http://www.lesch-nyhan.org/] (2022年7月閲覧)
 
10) Gordon RB, et al : Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency. Metabolism 23 : 921-927, 1974.
PubMed
11) Oh MM, et al : Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome. Urol Res 39 : 417-419, 2011.
PubMed
12) Gregoric A, et al : Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribo-syltransferase deficiency and a new mutation. Pediatr Nephrol 20 : 1346-1348, 2005.
 
P.72 掲載の参考文献
1) 内山聖 : Wilson病. 別冊日本臨牀腎臓症候群 (第2版) 上, p358-360, 日本臨牀社, 2012.
 
2) Huster D : Wilson disease. Best Pract Res Clin Gastroenterol 24 : 531-539, 2010.
PubMed
3) Litwin T, et al : Gender differences in Wilson's disease. J Neurol Sci 312 : 31-35, 2012.
 
4) Saito T : Presenting symptoms and natural history of Wilson disease. Eur J Pediatr 146 : 261-265, 1987.
PubMed
5) El-Youssef M : Wilson disease. Mayo Clin Proc 78 : 1126-1136, 2003.
PubMed
6) Pilloni L, et al : Value of histochemical stains for copper in the diagnosis of Wilson's disease. Histopathology 33 : 28-33, 1998.
 
7) Fenu M, et al : Kayser-Fleischer ring in Wilson's disease : a cohort study. Eur J Intern Med 23 : e150-156, 2012.
 
8) Youn J, et al : Characteristics of neurological Wilson's disease without Kayser-Fleischer ring. J Neurol Sci 323 : 183-186, 2012.
 
9) Foreman JW : Wilson Disease. In : Comprehensive Clinical Nephrology, 6th edition (ed by Feehally J, et al), p592, Elsevier, Philadelphia, 2019.
 
10) Shimamura Y, et al : Immunoglobulin A nephropathy secondary to Wilson's disease : a case report and literature review. CEN Case Rep 8 : 61-66, 2019.
 
11) Bhandari G, et al : IgA Nephropathy with Wilson's Disease : A Case Report and Literature Review. Indian J Nephrol 31 : 474-477, 2021.
 
12) Wilson病診療ガイドライン 2015 (日本小児栄養消化器肝臓学会, ほか編), 2015.
 
13) Dastych M, et al : Copper and zinc in the serum, urine, and hair of patients with Wilson's disease treated with penicillamine and zinc. Biol Trace Elem Res 133 : 265-269, 2010.
 
14) 清水教一 : Wilson病に対する亜鉛治療の実際. 亜鉛栄養治療 2 : 30-34, 2011.
 
15) 日本肝移植研究会 : 肝移植症例登録報告. 移植 49 : 261-274, 2014.
Medical*Online
P.76 掲載の参考文献
1) Huguley CM, et al : Refractory megaloblastic anemia associated with excretion of orotic acid. Blood 14 : 615-634, 1959.
PubMed
2) Sumi S, et al : Pyrimidine metabolism in hereditary orotic aciduria. J Inhrit Metab Dis 20 : 104-105, 1997.
PubMed
3) Imaeda M, et al : Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms. Tohoku J Exp Med 185 : 67-70, 1998.
PubMed
4) Wortmann SB, et al : Mild orotic aciduria in UMPS heterozygotes : a metabolic finding without clinical consequences. J Inherit Metab Dis 40 : 423-431, 2017.
PubMed
5) Ma R, et al : Case Report : A Novel Missense Mutation c.517G>C in the UMPS Gene Associated With Mild Orotic Aciduria. Front Neurol 13 : 819116, 2022.
PubMed
6) Bailey CJ : Orotic aciduria and uridine monophosphate synthase : a reappraisal. J Inherit Metab Dis 32 (Suppl 1) : S227-233, 2009.
PubMed
7) Grohmann K, et al : Hereditary orotic aciduria with epilepsy and without megaloblastic anemia. Neuropediatrics 46 : 123-125, 2015.
PubMed
8) Suchi M, et al : Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. Am J Hum Genet 60 : 525-539, 1997.
PubMed
P.81 掲載の参考文献
1) Dent CE, Philpot GR : Xanthinuria, an inborn error (or deviation) of metabolism. Lancet 266 : 182-185, 1954.
PubMed
2) Simmonds HA : Hereditary xanthinuria. Orphanet Encyclopedia. Update July 2003. Accessed October 15, 2021. [https://www.orpha.net/data/patho/GB/uk-XDH.pdf]
 
3) Reiter S, et al : Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol. Clin Chim Acta 187 : 221-234, 1990.
 
4) Yamamoto T, et al : Metabolism of pyrazinamide and allopurinol in hereditary xanthine oxidase deficiency. Clin Chim Acta 180 : 169-175, 1989.
PubMed
5) Harkness RA, et al : Pregnancy in and incidence of xanthine oxidase deficiency. J Inherit Metab Dis 9 : 407-408, 1986.
PubMed
6) Reiss J, Hahnewald R : Molybdenum cofactor deficiency : Mutations in GPHN, MOCS1, and MOCS2. Hum Mutat 32 : 10-18, 2011.
PubMed
7) Duran M, et al : Combined deficiency of xanthine oxidase and sulphite oxidase : a defect of molybdenum metabolism or transport? J Inherit Metab Dis 1 : 175-178, 1978.
 
8) Johnson JL, et al : Inborn errors of molybdenum metabolism : combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Proc Natl Acad Sci U S A 77 : 3715-3719, 1980.
 
9) Wadman SK, et al : Absence of hepatic molybdenum cofactor : an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase. J Inherit Metab Dis 6 (Suppl 1) : 78-83, 1983.
 
10) Havemeyer A, et al : Identification of the missing component in the mitochondrial benzamidoxime prodrug-converting system as a novel molybdenum enzyme. J Biol Chem 281 : 34796-34802, 2006.
PubMed
11) Ichida K, et al : Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. J Clin Invest 99 : 2391-2397, 1997.
PubMed
12) Ichida K, et al : Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. Biochem Biophys Res Commun 282 : 1194-1200, 2001.
PubMed
13) Qiao Y, et al : Inhibition of vertebrate aldehyde oxidase as a therapeutic treatment for cancer, obesity, aging and amyotrophic lateral sclerosis. Eur J Med Chem 187 : 111948, 2020.
PubMed
14) Sparacino-Watkins CE, et al : Nitrite reductase and nitric-oxide synthase activity of the mitochondrial molybdopterin enzymes mARC1 and mARC2. J Biol Chem 289 : 10345-10358, 2014.
PubMed
15) Ichida K, et al : Two siblings with classical xanthinuria type 1 : significance of allopurinol loading test. Intern Med 37 : 77-82, 1998.
PubMed
16) Peretz H, et al : Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria. Metabolomics 8 : 951-959, 2012.
 
17) Veldman A, et al : Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics 125 : e1249-1254, 2010.
PubMed
18) Farrell S, et al : Regulatory news : Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A : FDA approval summary. J Inherit Metab Dis 44 : 1085-1087, 2021.
 
P.87 掲載の参考文献
1) Miyamoto T, et al : Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome. EMBO J 39 : e103499, 2020.
PubMed
2) Shimozawa N, et al : Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients : evidence for a founder haplotype for the most common PEX10 gene mutation. Am J Med Genet A 120A : 40-43, 2003.
PubMed
3) Shimozawa N, et al : A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 255 : 1132-1134, 1992.
PubMed
4) Gould SJ, et al : The Peroxisomal Biogenesis Disorders. In : The Metabolic and Molecular Basis of Inherited Disease, 8th ed (ed by Scriver CR et al), p3181-3217, McGraw-Hill, New York, 2001.
 
5) Anderson JN, et al : Cholbam and Zellweger spectrum disorders : treatment implementation and management. Orphanet J Rare Dis 16 : 388, 2021.
PubMed
6) van Woerden CS, et al : Primary hyperoxaluria type 1 in The Netherlands : prevalence and outcome. Nephrol Dial Transplant 18 : 273-279, 2003.
PubMed
7) Fargue S, et al : Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine : glyoxylate aminotransferase encoded by the polymorphic minor allele. J Biol Chem 288 : 2475-2484, 2013.
PubMed
8) Danpure CJ : Primary hyperoxaluria type 1 : AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways. Biochim Biophys Acta 1763 : 1776-1784, 2006.
PubMed
9) Latta K, Brodehl J : Primary hyperoxaluria type I. Eur J Pediatr 149 : 518-522, 1990.
PubMed
10) Cochat P, et al : Primary hyperoxaluria type 1 : still challenging! Pediatr Nephrol 21 : 1075-1081, 2006.
PubMed
11) 白髪宏司 : 肝腎同時移植. 小児科臨床 58 : 1935-1938, 2005.
Medical*Online
12) Jamieson NV, et al : A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1) : the European PH1 transplant registry experience 1984-2004. Am J Nephrol 25 : 282-289, 2005.
PubMed
13) Garrelfs SF, et al : Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1. N Engl J Med 384 : 1216-1226, 2021.
PubMed
P.92 掲載の参考文献
1) Berger R, et al : Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia. Clin Chim Acta 114 : 37-44, 1981.
 
2) Russo PA, et al : Tyrosinemia : a review. Pediatr Dev Pathol 4 : 212-221, 2001.
PubMed
3) Chinsky JM, et al : Diagnosis and treatment of tyrosinemia type I : a US and Canadian consensus group review and recommendations. Genet Med 19 : 1380-1395, 2017.
 
4) Nakamura K, et al : Tyrosinemia Type I in Japan : A Report of Five Cases. Adv Exp Med Biol 959 : 133-138, 2017.
PubMed
5) de Laet C, et al : Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis 8 : 8, 2013.
PubMed
6) 遠藤文夫 : 遺伝性高チロシン血症. 小児内科 35 : 317-321, 2003.
 
7) Stinton C, et al : Newborn screening for Tyrosinemia type 1 using succinylacetone-a systematic review of test accuracy. Orphanet J Rare Dis 12 : 48, 2017.
PubMed
8) Forget S, et al : The kidney in children with tyrosinemia : sonographic, CT and biochemical findings. Pediatr Radiol 29 : 104-108, 1999.
PubMed
9) Geppert J, et al : Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients : a systematic review. Orphanet J Rare Dis 12 : 154, 2017.
PubMed
10) Kienstra NS, et al : Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day. J Inherit Metab Dis 41 : 181-186, 2018.
 
11) Mayorandan S, et al : Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis 9 : 107, 2014.
PubMed
12) Maiorana A, et al : Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1. Mol Genet Metab 113 : 188-193, 2014.
PubMed
13) Larochelle J, et al : Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab 107 : 49-54, 2012.
PubMed
14) Thompson WS, et al : The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism. Expert Opin Orphan Drugs 8 : 245-256, 2020.
PubMed
P.96 掲載の参考文献
1) Eckardt KU, et al : Autosomal dominant tubulointerstitial kidney disease : diagnosis, classification, and management--A KDIGO consensus report. Kidney Int 88 : 676-683, 2015.
PubMed
2) Bleyer AJ, Kmoch S : Autosomal dominant tubulointerstitial kidney disease : of names and genes. Kidney Int 86 : 459-461, 2014.
PubMed
3) Goldman SH, et al : Hereditary occurrence of cystic disease of the renal medulla. N Engl J Med 274 : 984-992, 1966.
PubMed
4) Duncan H, Dixon AS : Gout, familial hypericaemia, and renal disease. Q J Med 29 : 127-135, 1960.
PubMed
5) Hart TC, et al : Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39 : 882-892, 2002.
PubMed
6) Bleyer AJ, et al : Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol 9 : 527-535, 2014.
PubMed
7) Bolar NA, et al : Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. Am J Hum Genet 99 : 174-187, 2016.
PubMed
8) Huynh VT, et al : Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney Int 98 : 476-487, 2020.
PubMed
9) Gast C, et al : Autosomal dominant tubulointerstitial kidney disease UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrol 19 : 301, 2018.
 
10) Groopman EE, et al : Diagnostic utility of exome sequencing for kidney disease. N Engl J Med 380 : 142-151, 2019.
PubMed
11) Vyletal P, et al : Uromodulin biology and pathophysiology--an update. Kidney Blood Press Res 33 : 456-475, 2010.
PubMed
12) Moskowitz JL, et al : Association between genotype and phenotype in uromodulin-associated kidney disease. Clin J Am Soc Nephrol 8 : 1349-1357, 2013.
PubMed
13) 井藤奈央子, ほか : 髄質嚢胞性腎疾患研究の進歩. 日本腎臓学会誌 60 : 543-552, 2018.
 
14) Olinger E, et al : Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney Int 98 : 717-731, 2020.
PubMed
15) Fairbanks LD, et al : Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. QJM 95 : 597-607, 2002.
 
16) Cormican S, et al : Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease. Clin Transplant 34 : e13783, 2020.
PubMed
P.102 掲載の参考文献
1) 山崎知行, 冨田晃司 : 筋グリコーゲン病. 別冊日本臨牀新領域別症候群シリーズ No. 17 腎臓症候群 (第2版) (上), p387-394, 日本臨牀社, 2012.
 
2) Ozen H : Glycogen storage diseases : new perspectives. World J Gastroenterol 13 : 2541-2553, 2007.
PubMed
3) Tarnopolsky MA : Myopathies Related to Glycogen Metabolism Disorders. Neurotherapeutics 15 : 915-927, 2018.
PubMed
4) Kanungo S, et al : Glycogen metabolism and glycogen storage disorders. Ann Transl Med 6 : 474, 2018.
PubMed
5) 杉江秀夫, 杉江陽子 : 筋型グリコーゲン代謝異常症の進歩とトピックス. 代謝性ミオパチー (杉江秀夫編), p31-35, 診断と治療社, 2014.
 
6) 杉江秀夫, 杉江陽子 : グリコーゲン代謝について. 代謝性ミオパチー (杉江秀夫編), p36-41, 診断と治療社, 2014.
 
7) 福田冬季子 : 診断の進め方. 代謝性ミオパチー (杉江秀夫編), p42-45, 診断と治療社, 2014.
 
8) 鋤柄小百合 : 糖原病0型. 代謝性ミオパチー (杉江秀夫編), p46-47, 診断と治療社, 2014.
 
9) 福田冬季子 : 糖原病II型 (Pompe病). 代謝性ミオパチー (杉江秀夫編), p48-49, 診断と治療社, 2014.
 
10) 福田冬季子 : 糖原病III型 (Cori病). 代謝性ミオパチー (杉江秀夫編), p50-51, 診断と治療社, 2014.
 
11) 南部光彦 : 糖原病IV型 (Andersen病). 代謝性ミオパチー (杉江秀夫編), p52-55, 診断と治療社, 2014.
 
12) 辻野精一 : 糖原病V型 (McArdle病). 代謝性ミオパチー (杉江秀夫編), p56-58, 診断と治療社, 2014.
 
13) 高橋正紀, 山崎知行 : 糖原病VII型 (Tarui病). 代謝性ミオパチー (杉江秀夫編), p59-61, 診断と治療社, 2014.
 
14) Nakajima H, et al : Phosphofructokinase deficiency : past, present and future. Curr Mol Med 2 : 197-212. 2002.
PubMed
15) 石垣景子 : 糖原病IX型 (前VIII型). 代謝性ミオパチー (杉江秀夫編), p62-65, 診断と治療社, 2014.
 
16) 杉江秀夫, 杉江陽子 : ホスホグリセリン酸キナーゼ (phosphoglycerate kinase) 欠損症. 代謝性ミオパチー (杉江秀夫編), p66-68, 診断と治療社, 2014.
 
17) 辻野精一 : 糖原病X型筋ホスホグリセリン酸ムターゼ (muscle phosphglycerate mutase) 欠損症. 代謝性ミオパチー (杉江秀夫編), p69-70, 診断と治療社, 2014.
 
18) 宮嶋裕明 : 糖原病XI型乳酸脱水素酵素 (Lactate dehydrogenase) 欠損症. 代謝性ミオパチー (杉江秀夫編), p71-74, 診断と治療社, 2014.
 
19) 杉江秀夫, 杉江陽子 : 糖原病XII型アルドラーゼA (aldolase-A) 欠損症. 代謝性ミオパチー (杉江秀夫編), p75-76, 診断と治療社, 2014.
 
20) 福田冬季子 : 糖原病XIII型βエノラーゼ (β enolase) 欠損症. 代謝性ミオパチー (杉江秀夫編), p77-78, 診断と治療社, 2014.
 
21) 杉江秀夫, 杉江陽子 : 糖原病XIV型ホスホグルコムターゼ (phosphoglucomutase) 欠損症. 代謝性ミオパチー (杉江秀夫編), p79-81, 診断と治療社, 2014.
 
22) 杉江秀夫, 杉江陽子 : 糖原病XV 型グリコゲニン-1 (glycogenin-1) 欠損症. 代謝性ミオパチー (杉江秀夫編), p82-83, 診断と治療社, 2014.
 
23) Fikri-Benbrahim O, et al : From acute renal failure to the diagnosis of McArdle's disease. Nefrologia 33 : 605-606, 2013.
 
24) Cosentini V, et al : A case of acute renal failure secondary to late-onset McArdle's disease. G Ital Nefrol 30 : gin/30.3.17, 2013.
 
25) Costa R, et al : McArdle disease presenting with rhabdomyolysis and acute kidney injury. Acta Med Port 26 : 463-466, 2013.
PubMed
26) Torner S, et al : Rhabdomyolysis With Acute Renal Failure Requiring Dialysis in McArdle Disease : A Role for the Antidepressant Venlafaxine? J Clin Psychopharmacol 36 : 406-408, 2016.
PubMed
27) Zhao X, et al : McArdle disease : a "pediatric" disorder presenting in an adult with acute kidney injury. CEN Case Rep 6 : 156-160, 2017.
 
28) Chocair PR, et al : An elderly diabetic patient with McArdle disease and recurrent rhabdomyolysis : a potential association with late hypoinsulinemia? BMC Geriatr 20 : 451, 2020.
PubMed
29) Satoh A, et al : Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. CEN Case Rep 8 : 194-199, 2019.
PubMed
30) Gooch C, et al : Repeatedly in Rhabdomyolysis. Pediatr Emerg Care 37 : e1759-e1760, 2021.
PubMed
31) Hamadeh M, et al : Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease. Clin Med Res 19 : 90-93, 2021.
 
32) Veiga H, et al : Acute Kidney Injury Requiring Dialysis in McArdle Disease : A Case Report of a Rarely Seen Presentation. Cureus 14 : e22055, 2022.
PubMed
33) Kolovou G, et al : Non-traumatic and non-drug-induced rhabdomyolysis. Arch Med Sci Atheroscler Dis 4 : e252-e263, 2019.
PubMed
34) Mineo I, et al : Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med 317 : 75-80, 1987.
 
35) Yanai H, et al : Molecular Biological and Clinical Understanding of the Pathophysiology and Treatments of Hyperuricemia and Its Association with Metabolic Syndrome, Cardiovascular Diseases and Chronic Kidney Disease. Int J Mol Sci 22 : 9221, 2021.
PubMed
36) Wang HT, et al : Gouty arthritis and chronic renal insufficiency in a patient with glycogen storage disease of the muscle-energy group. Aust N Z J Med 26 : 418-419, 1996.
 
P.106 掲載の参考文献
1) Chen YT : Glycogen storage diseases. In : The Metabolic & Molecular Bases of Inherited Disease, 8th ed (ed by Scriver CR, et al), p1521-1551, McGraw-Hill, New York, 2001.
 
2) Chen YT, et al : Renal disease in type I glycogen storage disease. N Engl J Med 318 : 7-11, 1988.
PubMed
3) Cohen J, Friedman M : Renal tubular acidosis associated with type III glycogenosis. Acta Paediatr Scand 68 : 779-782, 1979.
PubMed
4) McDermott M, et al : Acute renal failure in McArdle's disease. South Med J 75 : 309-312, 1982.
PubMed
5) 津田正彦 : Fanconi-Bickel症候群. 小児内科 41 (増刊号) : 407-409, 2009.
 
6) Chen YT : Type I glycogen storage disease : kidney involvement, pathogenesis and its treatment. Pediatr Nephrol 5 : 71-76, 1991.
PubMed
7) Baker L, et al : Hyperfiltration and renal disease in glycogen storage disease, type I. Kidney Int 35 : 1345-1350, 1989.
PubMed
8) Obara K, et al : Renal histology in two adult patients with type I glycogen storage disease. Clin Nephrol 39 : 59-64, 1993.
PubMed
9) 望月弘, ほか : 末期腎不全に至った糖原病I型の1女性例. 第22回日本腎臓学会東部会口演, 1992.
 
10) Rake JP, et al : Guidelines for management of glycogen storage disease type I-European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 161 (Suppl 1) : S112-119, 2002.
 
11) Dambska M, et al : Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. Pediatr Diabetes 18 : 327-331, 2017.
PubMed
12) Kikuchi M, et al : Secondary amyloidosis in glycogen storage disease type Ib. Eur J Pediatr 149 : 344-345, 1990.
PubMed
13) Chen YT, et al : Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. N Engl J Med 323 : 590-593, 1990.
PubMed
14) Restaino I, et al : Renal tubular abnormalities and nephrocalcinosis in patients with type Ia glycogen storage disease. Pediatr Res 27 : 337A, 1990.
 
15) Iyer SG, et al : Long-term results of living donor liver transplantation for glycogen storage disorders in children. Liver Transpl 13 : 848-852, 2007.
PubMed
16) Davis MK, Weinstein DA : Liver transplantation in children with glycogen storage disease : controversies and evaluation of the risk/benefit of this procedure. Pediatr Transplant 12 : 137-145, 2008.
PubMed
17) Vandepitte K, et al : Continuous ambulatory peritoneal dialysis (CAPD) in a patient with glucose-6-phosphatase deficiency. Perit Dial Int 9 : 111-114, 1989.
 
18) 早川洋, ほか : Hemodialysis (HD) からcontinuous ambulatory peritoneal dialysis (CAPD) への変更により代謝改善をみたglycogen storage disease Type I 由来の慢性腎不全の一例. 日本腎臓学会誌 38 : 530-534, 1996.
 
19) Emmett M, Narins RG : Renal tranplantation in type 1 glycogenosis. Failure to improve glucose metabolism. JAMA 239 : 1642-1644, 1978.
PubMed
20) Chen YT, Scheinman JI : Hyperglycaemia associated with lactic acidaemia in a renal allograft recipient with type I glycogen storage disease. J Inherit Metab Dis 14 : 80-86, 1991.
 
P.111 掲載の参考文献
1) Platt FM, et al : Lysosomal storage diseases. Nat Rev Dis Primers 4 : 27, 2018.
PubMed
2) Tang C, et al : Autophagy in kidney homeostasis and disease. Nat Rev Nephrol 16 : 489-508, 2020.
PubMed
3) Pastores GM, Hughes DA : Non-neuronopathic lysosomal storage disorders : Disease spectrum and treatments. Best Pract Res Clin Endocrinol Metab 29 : 173-182, 2015.
PubMed
4) Koto Y, et al : Prevalence of patients with lysosomal storage disorders and peroxisomal disorders : A nationwide survey in Japan. Mol Genet Metab 133 : 277-288, 2021.
PubMed
5) Meyer-Schwesinger C : Lysosome function in glomerular health and disease. Cell Tissue Res 385 : 371-392, 2021.
PubMed
6) Nesterova G, Gahl WA : Cystinosis. GeneReviewsR [Internet], University of Washington, Seattle ; 1993-2022, 2001 Mar 22. [updated 2017 Dec 7]
 
7) Elmonem MA, et al : Cystinosis : a review. Orphanet J Rare Dis 11 : 47, 2016.
PubMed
8) シスチノーシス (シスチン蓄積症) 診療ガイドライン 2019 (日本先天代謝異常学会編), 診断と治療社, 2019.
 
9) Maroofian R, et al : Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child. Kidney Int Rep 3 : 1454-1463, 2018.
 
10) Berkovic SF, et al : Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 82 : 673-684, 2008.
PubMed
11) Taylor J, et al : Nephrotic syndrome and hypertension in two children with Hurler syndrome. J Pediatr 108 : 726-729, 1986.
PubMed
12) Sperl W, et al : Nephrosis in two siblings with infantile sialic acid storage disease. Eur J Pediatr 149 : 477-482, 1990.
PubMed
13) Lemyre E, et al : Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet 82 : 385-391, 1999.
PubMed
14) Kobayashi H, et al : Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction. Mol Genet Metab 102 : 170-175, 2011.
 
15) 日本先天代謝異常学会 : 精密検査施設一覧. [http://jsimd.net/iof.html]
 
P.116 掲載の参考文献
1) Alagille D, et al : Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia) : review of 80 cases. J Pediatr 110 : 195-200, 1987.
 
2) Kamath BM, et al : Renal anomalies in Alagille syndrome : a disease-defining feature. Am J Med Genet A 158A : 85-89, 2012.
PubMed
3) Gilbert MA, et al : Alagille syndrome mutation update : Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat 40 : 2197-2220, 2019.
PubMed
4) Hayashi N, et al : Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation. Clin Kidney J 6 : 295-299, 2013.
 
5) Shimohata H, et al : An Adult Patient with Alagille Syndrome Showing Mainly Renal Failure and Vascular Abnormality without Liver Manifestation. Intern Med 59 : 2907-2910, 2020.
PubMed
6) Spinner NB, et al : Alagille Syndrome. 2000 May 19 [Updated 2019 Dec 12]. In : Adam MP, et al, editors. GeneReviewsR [Internet]. Seattle (WA) : University of Washington, Seattle ; 1993-2022. [https://www.ncbi.nlm.nih.gov/books/NBK1273/]
 
7) 須磨崎亮 : 厚生労働科学研究費補助金難治性疾患克服研究事業Alagille症候群など遺伝性胆汁うっ滞性疾患の診断ガイドライン作成, 実態調査並びに生体資料のバンク化に関する研究平成23年度総括・分担研究報告書, 2012.
 
8) 粟津緑 : Nephrogenesis に影響する因子. 日本腎臓学会誌 59 : 1244-1246, 2017.
 
9) Chung E, et al : Notch is required for the formation of all nephron segments and primes nephron progenitors for differentiation. Development 144 : 4530-4539, 2017.
PubMed
10) Mukherjee M, et al : Notch Signaling in Kidney Development, Maintenance, and Disease. Biomolecules 9 : 692, 2019.
 
11) 和田宏来, ほか : アラジール症候群. 肝胆膵 72 : 721-726, 2016.
Medical*Online
12) Shneider BL, et al : Placebo-Controlled Randomized Trial of an Intestinal Bile Salt Transport Inhibitor for Pruritus in Alagille Syndrome. Hepatol Commun 2 : 1184-1198, 2018.
PubMed
13) Salem JE, et al : Hypertension and aortorenal disease in Alagille syndrome. J Hypertens 30 : 1300-1306, 2012.
PubMed
14) Kamath BM, et al : Vascular anomalies in Alagille syndrome : a significant cause of morbidity and mortality. Circulation 109 : 1354-1358, 2004.
PubMed
15) 和田宏来, ほか : Alagille症候群. 小児内科 48 : 1489-1492, 2016.
Medical*Online
P.121 掲載の参考文献
1) Mueller RF : The Denys-Drash syndrome. J Med Genet 31 : 471-477, 1994.
PubMed
2) Little M, Wells C : A clinical overview of WT1 gene mutations. Hum Mutat 9 : 209-225, 1997.
 
3) Ahn YH, et al : Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy. Pediatr Nephrol 32 : 81-89, 2017.
PubMed
4) Lipska-Zietkiewicz BS : WT1 Disorder. In : GeneReviews(R) [Internet] (ed by Adam MP, et al), University of Washington, Seattle, 2020. Ap 30. [Updated 2021 Ap 29]
 
5) Davis LM, et al : A tumor chromosome rearrangement further defines the 11p13 Wilms tumor locus. Genomics 10 : 588-592, 1991.
PubMed
6) Hastie ND : Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development. Hum Mol Genet 1 : 293-295, 1992.
 
7) Nishi K, et al : Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. Clin Exp Nephrol 23 : 1058-1065, 2019.
PubMed
8) Nso Roca AP, et al : Evolutive study of children with diffuse mesangial sclerosis. Pediatr Nephrol 24 : 1013-1019, 2009.
PubMed
9) Hutson JM, et al : Malformation syndromes associated with disorders of sex development. Nat Rev Endocrinol 10 : 476-487, 2014.
PubMed
10) Aronson DC, et al : Long-term outcome of bilateral Wilms tumors (BWT). Pediatr Blood Cancer 56 : 1110-1113, 2011.
PubMed
11) Nishi K, et al : Refractory Hypertension in Infantile-Onset Denys-Drash Syndrome. Tohoku J Exp Med 252 : 45-51, 2020.
PubMed
12) Hughes IA, et al : Consensus statement on management of intersex disorders. Arch Dis Child 91 : 554-563, 2006.
PubMed
13) Nagano C, et al : Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep 10 : 270, 2020.
PubMed
14) 日本小児内分泌学会性分化・副腎疾患委員会 : Webtext : 性分化疾患の診断と治療, 2016.
 
15) Nishi K, et al : Risk factors for post-nephrectomy hypotension in pediatric patients. Pediatr Nephrol 36 : 3699-3709, 2021.
PubMed
P.126 掲載の参考文献
1) Tsuji Y, et al : Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome. Kidney Int Rep 6 : 2585-2593, 2021.
PubMed
2) Nagano C, et al : Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep 10 : 270, 2020.
PubMed
3) Call KM, et al : Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60 : 509-520, 1990.
PubMed
4) Gessler M, et al : Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature 343 : 774-778, 1990.
PubMed
5) Reddy JC, Licht JD : The WT1 Wilms' tumor suppressor gene : how much do we really know? Biochim Biophys Acta 1287 : 1-28, 1996.
PubMed
6) Morrison AA, et al : New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes. Am J Physiol Renal Physiol 295 : F12-17, 2008.
PubMed
7) Hammes A, et al : Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell 106 : 319-329, 2001.
PubMed
8) Hennes E, et al : Molecular genetic analysis of bilateral ovarian germ cell tumors. Klin Padiatr 224 : 359-365, 2012.
PubMed
9) Barbaux S, et al : Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17 : 467-470, 1997.
PubMed
10) Joki-Erkkila MM, et al : Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure : a case of Frasier syndrome. J Pediatr Adolesc Gynecol 15 : 145-149, 2002.
 
11) 山藤陽子, ほか : 原発性無月経の精査を機にFrasier症候群と診断した末期腎不全の1例. 日本小児腎臓病学会雑誌 19 : 15-18, 2006.
Medical*Online
P.133 掲載の参考文献
1) Galloway WH, Mowat AP : Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet 5 : 319-321, 1968.
PubMed
2) Keith J, et al : Neuropathological homology in true Galloway-Mowat syndrome. J Child Neurol 26 : 510-517, 2011.
PubMed
3) Braun DA, et al : Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 49 : 1529-1538, 2017.
PubMed
4) Braun DA, et al : Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A 176 : 2460-2465, 2018.
PubMed
5) Colin E, et al : Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome : Galloway-Mowat syndrome. Am J Hum Genet 95 : 637-648, 2014.
PubMed
6) Rosti RO, et al : Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet A 170A : 992-998, 2016.
PubMed
7) Rosti RO, et al : Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J Med Genet 54 : 399-403, 2017.
PubMed
8) Fujita A, et al : Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol 84 : 814-828, 2018.
PubMed
9) Mann N, et al : Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol 32 : 580-596, 2021.
PubMed
10) 小児慢性特定疾病情報センター : ギャロウェイ・モワト (Galloway-Mowat)症候群. [https://www.shouman.jp/disease/details_next_2021/02_01_006/]
 
11) Suzuki T : The expanding world of tRNA modifications and their disease relevance. Nat Rev Mol Cell Biol 22 : 375-392, 2021.
PubMed
12) Tahmasebi S, et al : Translation deregulation in human disease. Nat Rev Mol Cell Biol 19 : 791-807, 2018.
 
13) Miyake N, et al : Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. Am J Hum Genet 97 : 555-566, 2015.
PubMed
14) Shiihara T, et al : Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers : a possible mild form of Galloway-Mowat syndrome. J Child Neurol 18 : 147-149, 2003.
 
15) Hyun HS, et al : A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation : a case report. BMC Med Genet 19 : 131, 2018.
 
P.137 掲載の参考文献
1) Jeune M, et al : Dystrophie thoracique asphyxiante de caractere familial. Arch Fr Pediatr 12 : 886-891, 1955.
PubMed
2) Oberklaid F, et al : Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child 52 : 758-765, 1977.
PubMed
3) Cossu C, et al : New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. Clin Chim Acta 455 : 172-180, 2016.
PubMed
4) Baujat G, et al : Asphyxiating thoracic dysplasia : clinical and molecular review of 39 families. J Med Genet 50 : 91-98, 2013.
PubMed
5) Schmidts M, et al : Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet 50 : 309-323, 2013.
PubMed
6) Chitayat D, et al : Brachydactyly-short stature-hypertension (Bilginturan) syndrome : report on two families. Am J Med Genet 73 : 279-285, 1997.
PubMed
7) Cortina H, et al : The wide spectrum of the asphyxiating thoracic dysplasia. Pediatr Radiol 8 : 93-99, 1979.
PubMed
8) Torbus O, et al : Asphyxiating thoracic dysplasia (Jeune's Syndrome) in 15-years-old boy-6 years of observation. Wiad Lek 55 : 635-643, 2002.
 
9) Kajantie E, et al : Familial asphyxiating thoracic dysplasia : clinical variability and impact of improved neonatal intensive care. J Pediatr 139 : 130-133, 2001.
PubMed
10) Keppler-Noreuil KM, et al : Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A 155 : 1021-1032, 2011.
 
11) Harms K, et al : Variability of Jeune syndrome. Lung hypoplasia, renal failure and direct hyperbilirubinemia in a newborn infant. Monatsschr Kinderheilkd 141 : 868-873, 1993.
 
12) Shah KJ : Renal lesion in Jeune's syndrome. Br J Radiol 53 : 432-436, 1980.
 
13) Ring E, et al : Retrospective diagnosis of Jeune's syndrome in two patients with chronic renal failure. Child Nephrol Urol 10 : 88-91, 1990.
 
14) Hildebrandt F : Nephronophthisis. In : Pediatric Nephrology, 4th ed (ed by Barratt TM, et al), p453-458, Lippincott, Williams and Wilkins, Baltimore, 1999.
 
15) Fernandez de Monter CJ, et al : Familial juvenile nephronophthisis (report on 16 families with shared family tree). Nefrologia 20 : 151-157, 2000.
PubMed
16) Schuster H, et al : Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. Nat Genet 13 : 98-100, 1996.
 
17) Lehman AM, et al : Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet A 152A : 1411-1419, 2010.
PubMed
18) Karjoo M, et al : Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy. Arch Dis Child 48 : 143-146, 1973.
PubMed
19) Labrune P, et al : Jeune syndrome and liver disease : report of three cases treated with ursodeoxycholic acid. Am J Med Genet 87 : 324-328, 1999.
PubMed
20) Hudgins L, et al : Early cirrhosis in survivors with Jeune thoracic dystrophy. Am J Hum Genet 47 : A61, 1990.
 
21) Yerian LM, et al : Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). Semin Liver Dis 23 : 195-200, 2003.
PubMed
22) den Hollander NS, et al : Early prenatal sonographic diagnosis and follow-up of Jeune syndrome. Ultrasound Obstet Gynecol 18 : 378-383, 2001.
PubMed
23) Langer LO Jr. Thoracic-pelvic-phalangeal dystrophy : Asphyxiating thoracic dystrophy of the newborn, infantile thoracic dystrophy. Radiology 91 : 447-456, 1968.
 
24) Oberklaid F, et al : Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child 52 : 758-765, 1977.
PubMed
P.141 掲載の参考文献
1) Angulo MA, et al : Prader-Willi syndrome : A review of clinical, genetic, and endocrine findings. J Endocrinol Invest 38 : 1249-1263, 2015.
PubMed
2) Cassidy SB, Driscoll DJ : Prader-Willi syndrome. Eur J Hum Genet 17 : 3-13, 2009.
PubMed
3) Cassidy SB, et al : Prader-Willi syndrome. Genet Med 14 : 10-26, 2012.
PubMed
4) Holm VA, et al : Prader-Willi syndrome : consensus diagnostic criteria. Pediatrics 91 : 398-402, 1993.
PubMed
5) Miller JL, et al : Dietary Management for Adolescents with Prader-Willi Syndrome. Adolesc Health Med Ther 11 : 113-118, 2020.
PubMed
P.149 掲載の参考文献
1) Osler W : Congenital absence of the abdominal muscles, with distended and hypertrophied urinary bladder : Bull Johns Hopkins Hosp 12 : 331-333, 1901.
 
2) Iqbal NS, et al : Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. BMC Med Genet 21 : 38, 2020.
PubMed
3) Talluri S, et al : Case Report : Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome. Front Pediatr 9 : 729932, 2021.
PubMed
4) Palmer JM, Tesluk H : Ureteral pathology in the prune belly syndrome. J Urol 111 : 701-707, 1974.
PubMed
5) Snyder HM, et al : Urodynamics in the prune belly syndrome. Br J Urol 48 : 663-670, 1976.
PubMed
6) Stephens FD, Gupta D : Pathogenesis of the prune belly syndrome. J Urol 152 : 2328-2331, 1994.
PubMed
7) Duckett JW Jr : Cutaneous vesicostomy in childhood, The Blocksom technique. Urol Clin North Am 1 : 485-495, 1974.
 
8) Kajbafzadeh AM, et al : Urethral hydrodistension for management of urethral hypoplasia in prune belly syndrome : long-term results. J Pediatr Surg 45 : 2217-2221, 2010.
PubMed
9) Randolph J, et al : Surgical correction and rehabilitation for children with "Prune-belly" syndrome. Ann Surg 193 : 757-762, 1981.
PubMed
10) Ehrlich RM, et al : Total abdominal wall reconstruction in the prune-belly syndrome. J Urol 136 : 282-285, 1986.
PubMed
11) Monfort G, et al : A novel technique for reconstruction of the abdominal wall in the prune belly syndrome. J Urol 146 : 639-640, 1991.
PubMed
12) Lopes RI, et al : Gonadal Function and Reproductive System Anatomy in Postpubertal Prune-Belly Syndrome Patients. Urology 145 : 292-296, 2020.
PubMed
13) Woodhouse CR, Snyder 3rd HM : Testicular and sexual function in adults with prune belly syndrome. J Urol 133 : 607-609, 1985.
 
14) Elder JS, et al : Intervention for fetal obstructive uropathy : Has it been effective? Lancet 2 (8566) : 1007-1010, 1987.
PubMed
15) Papantoniou N, et al : Prenatal diagnosis of prune-belly syndrome at 13 weeks of gestation : case report and review of literature. J Matern Fetal Neonatal Med 23 : 1263-1267, 2010.
PubMed
16) Woodard Jr, Smith EA : Prune belly syndrome. In : Campbell's Urology (ed by Walsh PC, et al), p1917-1938, WB Saunders, Philadelphia, 1998.
 
17) Waldbaum RS, Marshall VF : The prune belly syndrome : A diagnostic therapeutic plan. J Urol 103 : 668-674, 1970.
PubMed
18) 牧角和彦, ほか : 長期生存したPrune belly症候群の1例. 泌尿器外科 8 : 855-857, 1995.
Medical*Online
19) Becknell B, et al : Hepatoblastoma and prune belly syndrome : a potential association. Pediatr Nephrol 26 : 1269-1273, 2011.
PubMed
P.153 掲載の参考文献
1) Cockayne EA : Dwarfism with retinal atrophy and deafness. Arch Dis Child 11 : 1-8, 1936.
PubMed
2) Karikkineth AC, et al : Cockayne syndrome : Clinical features, model systems and pathways. Ageing Res Rev 33 : 3-17, 2017.
PubMed
3) 松田夢子, ほか : 特徴的遺伝子変異を認めたCockayne症候群Aの姉弟例. 脳と発達 49 : 423-426, 2017.
Medical*Online
4) Laugel V : Cockayne syndrome. GeneReviewsR [internet] [https://www.ncbi.nlm.nih.gov/books/NBK1342/]
 
5) Sugarman GI, et al : Cockayne syndrome, clinical study of two patients and neuropathologic findings in one. Clin Pediatr (Phila) 16 : 225-232, 1977.
PubMed
6) 難病情報センター : コケイン症候群 (指定難病192) (2021年7月現在). [https://www.nanbyou.or.jp/entry/4436]
 
7) Kubota M, et al : Nationwide survey of Cockayne syndrome in Japan : Incidence, clinical course and prognosis. Pediatr Int 57 : 339-347, 2015.
PubMed
P.157 掲載の参考文献
1) Ross EA, et al : Renal function and urate metabolism in late survivors with cyanotic congenital heart disease. Circulation 73 : 396-400, 1986.
PubMed
2) 長嶋正實, ほか : チアノーゼ型先天性心疾患にみられる腎疾患の頻度, 成因解析と診断, 治療法の策定. 日本小児循環器学会雑誌 22 : 130-133, 2006.
Medical*Online
3) Sakazaki H, et al : Predictive factors for long-term prognosis in adults with cyanotic congenital heart disease--Japanese multi-center study. Int J Cardiol 120 : 72-78, 2007.
PubMed
4) Dittrich S, et al : Renal impairment in patients with long-standing cyanotic congenital heart disease. Acta Paediatr 87 : 949-954, 1998.
PubMed
5) Lefrancais E, et al : The lung is a site of platelet biogenesis and a reservoir for haematopoietic progenitors. Nature 544 : 105-109, 2017.
 
6) Perloff JK, et al : Pathogenesis of the glomerular abnormality in cyanotic congenital heart disease. Am J Cardiol 86 : 1198-1204, 2000.
PubMed
7) Spear GS, et al : The glomerulus in cyanotic congenital heart disease : an immunofluorescent study. Bull Johns Hopkins Hosp 115 : 481-493, 1964.
PubMed
8) Hayashi K, et al : Development of nephropathy in an adult patient after Fontan palliation for cyanotic congenital heart disease. CEN Case Rep 10 : 354-358, 2021.
 
9) Hongsawong N, et al : Prevalence and associated factors of renal dysfunction and proteinuria in cyanotic congenital heart disease. Pediatr Nephrol 33 : 493-501, 2018.
PubMed
10) Yamada S, et al : Successful initiation and maintenance of hemodialysis in an adult patient with complete transposition of the great arteries. Clin Exp Nephrol 14 : 511-515, 2010.
 
11) Abe T, et al : Initiation of peritoneal dialysis in a patient with chronic renal failure associated with tetralogy of Fallot : a case report. BMC Nephrol 21 : 277, 2020.
 
12) 中澤誠, ほか : 成人チアノーゼ性先天性心疾患症例の罹病率, 生存率に関連する危険因子の検討-多施設共同研究-. 日本小児循環器学会雑誌 22 : 585-590, 2006.
Medical*Online
13) Story L, et al : Influence of birthweight on perinatal outcome in fetuses with antenatal diagnosis of congenital heart disease. J Obstet Gynaecol Res 41 : 896-903, 2015.
PubMed
14) Gjerde A, et al : Intrauterine Growth Restriction and Risk of Diverse Forms of Kidney Disease during the First 50 Years of Life. Clin J Am Soc Nephrol 15 : 1413-1423, 2020.
PubMed
P.162 掲載の参考文献
1) Niikawa N, et al : Kabuki make-up syndrome : a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99 : 565-569, 1981.
PubMed
2) Kuroki Y, et al : A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99 : 570-573, 1981.
PubMed
3) 黒木良和 : Kabuki make-up syndrome奇形症候群の成立過程を中心に. 小児科診療 61 : 1484-1487, 1998.
 
4) 松本直道, 新川詔夫 : Kabuki make-up症候群. 小児内科 33 (増刊) : 145-146, 2001.
 
5) 水野誠司 : Kabuki Make-up症候群. 小児内科 41 (増刊) : 285-288, 2009.
 
6) Adam MP, et al : Kabuki Syndrome. Synonyms : Kabuki Make-Up Syndrome, Niikawa-Kuroki Syndrome. In : GeneReviews [Internet]. Seattle (WA) : University of Washington, Seattle ; [updated 2021 Jul 15]
 
7) Wessels MW, et al : Kabuki syndrome : a review study of three hundred patients. Clin Dysmorphol 11 : 95-102, 2002.
PubMed
8) Bogershausen N, et al : Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum Mutat 37 : 847-864, 2016.
PubMed
9) Bogershausen N, Wollnik B : Unmasking Kabuki syndrome. Clin Genet 83 : 201-211, 2013.
PubMed
10) Courcet JB, et al : Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr 163 : 742-746, 2013.
PubMed
11) Hamdi Kamel M, et al : Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome. Pediatr Transplant 10 : 105-107, 2006.
 
12) 北山浩嗣, ほか : Kabuki症候群における腎疾患の臨床的検討. 日本小児腎不全学会雑誌 23 : 197-199, 2003.
 
13) Courcet JB, et al : Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr 163 : 742-746, 2013.
PubMed
14) Digilio MC, et al : Congenital heart defects in molecularly proven Kabuki syndrome patients. Am J Med Genet A 173 : 2912-2922, 2017.
PubMed
15) Kabuki Syndrome Guideline Development Group : Management of Kabuki Syndrome A Clinical Guideline, version 1, 2010. [https://sindromekabuki.es/docs/Kabuki%20Guidelines_0.pdf]
 
P.168 掲載の参考文献
1) Manor J, Lalani SR : Overgrowth Syndromes-Evaluation, Diagnosis, and Management. Front Pediatr 8 : 574857, 2020.
 
2) 副島英伸 : ゲノムインプリンティングの制御機構とインプリンティング疾患の発症機序. 医学のあゆみ 263 : 281-286, 2017.
Medical*Online
3) Lapunzina P : Risk of tumorigenesis in overgrowth syndromes : a comprehensive review. Am J Med Genet C Semin Med Genet 137C : 53-71, 2005.
PubMed
4) Kalish JM, et al : Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res 23 : e115-e122, 2017.
PubMed
5) Simpson JL, et al : A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects Orig Artic Ser 11 : 18-24, 1975.
PubMed
6) Cottereau E, et al : Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet 163C : 92-105, 2013.
 
7) Magini P, et al : Prenatal diagnosis of Simpson-Golabi-Behmel syndrome. Am J Med Genet A 170 : 3258-3264, 2016.
PubMed
8) Li M, et al : GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet 102 : 161-168, 2001.
 
9) Perlman M : Perlman syndrome : familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. Am J Med Genet 25 : 793-795, 1986.
PubMed
10) Morris MR, et al : Perlman syndrome : overgrowth, Wilms tumor predisposition and DIS3L2. Am J Med Genet 163C : 106-113, 2013.
PubMed
11) Alessandri JL, et al : Perlman syndrome : report, prenatal findings and review. Am J Med Genet A 146A : 2532-2537, 2008.
PubMed
12) Sotos JF, et al : Cerebral gigantism in childhood-A syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 271 : 109-116, 1964.
 
13) Baujat G, Cormier-Daire V : Sotos syndrome. Orphanet J Rare Dis 2 : 36, 2007.
 
14) Kurotaki N, et al : Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30 : 365-366, 2002.
PubMed
15) Tatton-Brown K, et al : Genotype-phenotype associations in Sotos syndrome : an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 77 : 193-204, 2005.
PubMed
16) Sapp JC, et al : Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A 143A : 2944-2958, 2007.
PubMed
17) Gripp KW, et al : Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. Am J Med Genet A 170 : 2559-2569, 2016.
 
18) Peterman CM, et al : Sonographic screening for Wilms tumor in children with CLOVES syndrome. Pediatr Blood Cancer 64 : e26684, 2017.
 
P.172 掲載の参考文献
1) Melnick M, et al : Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig Artic Ser 11 : 121-128, 1975.
PubMed
2) Fraser FC, et al : Genetic aspects of the BOR syndrome-branchial fistulas, ear pits, hearing loss, and renal abnormalities. Am J Med Genet 2 : 241-252, 1978.
PubMed
3) Smith RJH : Branchiootorenal Spectrum Disorder. In : GeneReviewsR [Internet] (ed by Adam MP, et al), University of Washington, Seattle ; 1993-2022. 1999 Mar 19 [Updated 2018 Sep 6].
 
4) 飯島一誠 : 鰓弓耳腎 (BOR) 症候群の発症頻度調査と遺伝子診断法の確立に関する研究. 平成21年度厚生労働科学研究費補助金 (難治性疾患克服研究事業) 総括研究報告書, 2010.
 
5) Abdelhak S, et al : A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15 : 157-164, 1997.
PubMed
6) Ruf RG, et al : SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A 101 : 8090-8095, 2004.
PubMed
7) Xu PX, et al : Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 23 : 113-117, 1999.
PubMed
8) Krug P, et al : Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat 32 : 183-190, 2011.
 
9) Unzaki A, et al : Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. J Hum Genet 63 : 647-656, 2018.
PubMed
10) Hoskins BE, et al : Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 80 : 800-804, 2007.
PubMed
11) Masuda M, et al : Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome. Sci Rep 12 : 969, 2022.
PubMed
12) 飯島一誠 : 鰓弓耳腎 (BOR)症候群の遺伝子診断法の確立と診療体制モデル構築に関する研究. 平成22年度厚生労働科学研究費補助金 (難治性疾患克服研究事業) 総括研究報告書, 2011.
 
13) Engels S, et al : A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. J Med Genet 37 : 458-460, 2000.
 
P.177 掲載の参考文献
1) Rieger G : [On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl) ]. Klin Monbl Augenheilkd 170 : 697-706, 1977.
 
2) Sanyanusin P, et al : Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9 : 358-364, 1995.
 
3) Barua M, et al : Mutations in PAX2 associate with adult-onset FSGS. J Am Soc Nephrol 25 : 1942-1953, 2014.
PubMed
4) Higashide T, et al : Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. Am J Ophthalmol 139 : 203-205, 2005.
PubMed
5) Narahara K, et al : Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t (10 ; 13) translocation and optic nerve coloboma-renal disease. J Med Genet 34 : 213-216, 1997.
 
6) Benetti E, et al : Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. Nephrol Dial Transplant 22 : 2076-2078, 2007.
PubMed
7) Raca G, et al : Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med 13 : 437-442, 2011.
PubMed
8) Dureau P, et al : Renal coloboma syndrome. Ophthalmology 108 : 1912-1916, 2001.
PubMed
9) Okumura T, et al : Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. PLoS One 10 : e0142843, 2015.
PubMed
10) Rossanti R, et al : Clinical and genetic variability of PAX2-related disorder in the Japanese population. J Hum Genet 65 : 541-549, 2020.
PubMed
11) Torban E, et al : PAX2 suppresses apoptosis in renal collecting duct cells. Am J Pathol 157 : 833-842, 2000.
PubMed
12) Yamamura Y, et al : Identification of candidate PAX2-regulated genes implicated in human kidney development. Sci Rep 11 : 9123, 2021.
PubMed
13) Sako K, et al : Cyclin-dependent kinase 4-related tubular epithelial cell proliferation is regulated by Paired box gene 2 in kidney ischemia-reperfusion injury. Kidney Int 102 : 45-57, 2022.
PubMed
14) Bower M, et al : Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat 33 : 457-466, 2012.
PubMed
15) Weber S, et al : Prevalence of mutations in renal developmental genes in children with renal hypodysplasia : results of the ESCAPE study. J Am Soc Nephrol 17 : 2864-2870, 2006.
PubMed
16) Saida K, et al : A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease. CEN Case Rep 9 : 19-23, 2020.
 
17) Liu S, et al : A novel PAX2 heterozygous mutation in a family with Papillorenal syndrome : A case report and review of the literature. Am J Ophthalmol Case Rep 22 : 101091, 2021.
 
18) Kohlhase J, et al : SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat 26 : 176-183, 2005.
PubMed
19) Sanlaville D, Verloes A : CHARGE syndrome : an update. Eur J Hum Genet 15 : 389-399, 2007.
PubMed
20) Jacquet A, et al : Alagille syndrome in adult patients : it is never too late. Am J Kidney Dis 49 : 705-709, 2007.
 
P.183 掲載の参考文献
1) VanderBrink B, Reddy P : Anomalies of the Upper Urinary Tract. In : Campbell-Walsh-Wein Urology (ed by Partin AW, et al), p714-740, Elsevier, Philadelphia, 2021.
 
2) 折笠精一 : 上部尿路奇形. 小児泌尿器科学書 (生駒文彦監, 川村猛, 小林知彦編), p230-248, 金原出版, 1998.
 
3) Liapis H, Winyard P : Cystic Diseases and Developmental Kidney Defects. In : Heptinstall's Pathology of the Kidney, 6th ed (ed by Jennette JC, et al), p1257-1306, Lippincott Williams & Wilkins, Philadelphia, 2006.
 
4) van den Bosch CM, et al : Urological and nephrological findings of renal ectopia. J Urol 183 : 1574-1578, 2010.
PubMed
5) Yuksel A, Batukan C : Sonographic findings of fetuses with an empty renal fossa and normal amniotic fluid volume. Fetal Diagn Ther 19 : 525-532, 2004.
 
6) Guarino N, et al : The incidence of associated urological abnormalities in children with renal ectopia. J Urol 172 : 1757-1759 ; discussion 1759, 2004.
 
7) Gleason PE, et al : Hydronephrosis in renal ectopia : incidence, etiology and significance. J Urol 151 : 1660-1661, 1994.
PubMed
8) Koff S, Mutabagani K : Anomalies of position. In : Adult and Pediatric Urology, 4th ed (ed by Gillenwater JY, et al), p2129-2154, Lippincott Williams & Wilkins, Philadelphia, 2002.
 
9) 川村猛 : 異所性腎・変位腎・腎変位. 別冊日本臨牀腎臓症候群 (上), p347-351, 日本臨牀社, 1997.
 
10) 幡谷浩史 : 胸部腎. 別冊日本臨牀呼吸器症候群 (第3版) V, p347-350, 日本臨牀社, 2021.
 
11) Navaratnarajah A, et al : Bochdalek hernias associated with intrathoracic kidney : A case report and systematic review of outcomes including renal function. Clin Nephrol Case Stud 8 : 1-11, 2020.
 
12) Limwongse C : Syndromes and malformation of the urinary tract. In : Pediatric Nephrology, 6th ed (ed by Avner ED, et al), p121-156, Springer-Verlag, Berlin, 2009.
 
P.186 掲載の参考文献
1) Queisser-Luft A, et al : Malformations in newborn : results based on 30, 940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet 266 : 163-167, 2002.
PubMed
2) Geisinger JF : Supernumerary kidney. J Urol 38 : 331-356, 1937.
 
3) Rubin JS : Supernumerary kidney with aberrant ureter terminating externally. J Urol 60 : 405-408, 1948.
PubMed
4) Kumar M, et al : Right supernumerary kidney : A rare entity. Urol Case Rep 23 : 97-98, 2019.
 
5) 三井要造, ほか : 肉眼的血尿を契機に発見された右過剰腎の1例. 西日本泌尿器科 82 : 286-290, 2020.
Medical*Online
6) Rehder P, et al : Supernumerary kidneys : a clinical and radiological analysis of nine cases. BMC Urol 19 : 93, 2019.
 
7) Mejia M, et al : A Case of Supernumerary Kidney. Cureus 10 : e3686, 2018.
 
8) N'Guessan G, Stephens FD : Supernumerary kidney. J Urol 130 : 649-653, 1983.
 
9) Koureas AP, et al : Imaging of a supernumerary kidney. Eur Radiol 10 : 1722-1723, 2000.
PubMed
10) 賀来祐介, 西中村隆一 : 腎臓発生の分子機構と再生への展望. 生化学 84 : 985-993, 2012.
 
11) Grieshammer U, et al : SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site. Dev Cell 6 : 709-717, 2004.
PubMed
12) Kozlov VM, Schedl A : Duplex kidney formation : developmental mechanisms and genetic predisposition. F1000Research 2020, 9 (F1000 Faculty Rev) : 2. (Last updated : 06 JAN 2020) (DOI : 10.12688/f1000research.19826.1)
 
13) Sureka B, et al : Supernumerary kidneys--a rare anatomic variant. Surg Radiol Anat 36 : 199-202, 2014.
PubMed
14) Tada Y, et al : Free supernumerary kidney : a case report and review. J Urol 126 : 231-232, 1981.
 
P.189 掲載の参考文献
1) Mudoni A, et al : Crossed fused renal ectopia : case report and review of the literature. J Ultrasound 20 : 333-337, 2017.
PubMed
2) Bauer SB : Anormalies of the upper urinary tract. In : Campbell-Walsh Urology, 9th ed (ed by Wein AJ, et al), vol.4, p3291-3292, Saunders Elsevier, Philadelphia, 2007.
 
3) Ritchey M : Anormalies of the kidney. In Clinical Pediatric Urology, 3rd ed (ed by Panayotis P, et al), vol 1, p501-505, WB Saunders, Philadelphia, 1992.
 
4) Weyrauch HM Jr. : Anormalies of renal rotation. Surg Gynecol Obstet 69 : 183, 1939.
 
5) Campbell MF : Embryology and anormalis of genitourinary tract. In : Clinical Pediatric Urology, p166, WB saunders, Philadelphia, 1951.
 
P.193 掲載の参考文献
1) Puigvert A : La megacalicosis. Rev Clin Esp 91 : 69-80, 1963.
 
2) Gittes RF, Talner LB : Congenital megacalices versus obstructive hydronephrosis. J Urol 108 : 833-836, 1972.
PubMed
3) Alivanis P, et al : Bilateral congenital megacalycosis in a young male patient. Nephrol Dial Transplant 21 : 1446-1447, 2006.
 
4) Mandell GA, et al. : Association of congenital megacalycosis and ipsilateral segmental megaureter. Pediatr Radiol 17 : 28-33, 1987.
PubMed
5) Briner V, Thiel G : Hereditares Poland syndrom mit megacalicose der rechten nierce. Schweiz Med Wochenschr 118 : 898-903, 1988.
 
6) Johnston JH : Megacalicosis : a burnt-out obstruction? J Urol 110 : 344-346, 1973.
PubMed
7) Itatani H, et al : Development of the calyceal system in the human fetus. Ivest Urol 16 : 388-394, 1979.
 
8) Hildreth TA, et al : Congenital megacalyces associated with Hirschsprung's disease. Urology 7 : 187-189, 1976.
 
9) 河野祥二, ほか : 特異な顔貌, 内反足, 手指異常, 巨大尿管症を伴った皮膚弛緩症の1例. 日本小児科学会雑誌 94 : 368-372, 1990.
 
10) Minn D, et al : Further clinical and sensorial delineation of Schinzel-Giedion syndrome : report of two cases. Am J Med Genet 109 : 211-217, 2002.
PubMed
11) Gittes RF : Congenital megacalices. Monogr Urol 5 : 1-21, 1984.
 
12) Kasap B, et al : Megacalycosis : report of two cases. Pediatr Nephrol 20 : 828-830, 2005.
PubMed
13) Soler RP, et al : Unilateral multicystic dysplastic kidney and contralateral megacalycosis. An usual association. An Pediatr (Barc) 60 : 473-476, 2004.
 
14) Pereira Arias JG, et al : [Megacalycosis and lithiasis]. Arch Esp Urol 48 : 310-314, 1995.
PubMed
15) Glikman L, et al : Vascular polyps of ureter associated with megacalycosis and nephrolithiasis. Urology 30 : 378-379, 1987.
PubMed
P.198 掲載の参考文献
1) Ishikura K, et al : Pre-dialysis chronic kidney disease in children : results of a nationwide survey in Japan. Npehrol Dial Transplant 28 : 2345-2355, 2013.
PubMed
2) Harada R, et al : Epidemiology of pediatric chronic kidney disease/kidney failure : learning from registries and cohort studies. Pediatr Nephrol 37 : 1215-1229, 2022.
PubMed
3) Sanna-Cherchi S, et al : Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol 22 : 1675-1684, 2007.
PubMed
4) Jain S, Chen F : Developmental pathology of congenital kidney and urinary tract anomalies. Clin Kidney J 12 : 382-399, 2019.
PubMed
5) Ishiwa S, et al : Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations : an analysis of 66 patients at a single institution. Pediatr Nephrol 34 : 1457-1464, 2019.
 
6) Murugapoopathy V, et al : A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT). Clin J Am Soc Nephrol 15 : 723-731, 2020.
PubMed
7) Iglesias J, et al : [Potter syndrome]. Rev Chil Obstet Ginecol 46 : 220-227, 1981.
PubMed
8) Fujita N, et al : Ultrasonographic reference values and a simple yet practical formula for estimating average kidney length in Japanese children. Clin Exp Nephrol, 2022. (DOI : 10.1007/s10157-022-02205-0)
 
9) Hamada R, et al : Urine alpha 1-microglobulin-to-creatinine ratio and beta 2-microglobulin-to-creatinine ratio for detecting CAKUT with kidney dysfunction in children. Pediatr Nephrol, 2022. (DOI : 10.1007/s00467-022-05577-3)
 
10) Uemura O, et al : Creatinine-based equation to estimate the glomerular filtration rate in Japanese children and adolescents with chronic kidney disease. Clin Exp Nephrol 18 : 626-633, 2014.
PubMed
11) ESCAPE Trial Group ; Wuhl E, et al : Strict blood-pressure control and progression of renal failure in children. N Engl J Med 361 : 1639-1650, 2009.
PubMed
12) Tomotaki S, et al : Association between cord blood cystatin C levels and early mortality of neonates with congenital abnormalities of the kidney and urinary tract : a single-center, retrospective cohort study. Pediatr Nephrol 32 : 2089-2095, 2017.
PubMed
13) Katsoufis CP, et al : Risk Assessment of Severe Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) : A Birth Cohort. Front Pediatr 7 : 182, 2019.
PubMed
14) Sanna-Cherchi S, et al : Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney Int 76 : 528-533, 2009.
PubMed
15) Quirino IG, et al : Clinical course of 822 children with prenatally detected nephrouropathies. Clin J Am Soc Nephrol 7 : 444-451, 2012.
PubMed
P.203 掲載の参考文献
1) Weizer AZ, et al : Determining the incidence of horseshoe kidney from radiographic data at a single institution. J Urol 170 : 1722-1726, 2003.
 
2) Love L, Wasserman D : Massive unilateral non-functioning hydronephrosis in horseshoe kidney. Clin Radiol 26 : 409-415, 1975.
PubMed
3) Glodny B, et al : Kidney fusion anomalies revisited : clinical and radiological analysis of 209 cases of crossed fused ectopia and horseshoe kidney. BJU Int 103 : 224-235, 2009.
PubMed
4) Boatman DL, et al : Congenital anomalies associated with horseshoe kidney. J Urol 107 : 205-207, 1972.
PubMed
5) Raj GV, et al : Metabolic abnormalities associated with renal calculi in patients with horseshoe kidneys. J Endourol 18 : 157-161, 2004.
PubMed
6) Lippe B, et al : Renal malformations in patients with Turner syndrome : imaging in 141 patients. Pediatrics 82 : 852-856, 1988.
PubMed
7) Romics I, et al : Bilateral renal cell carcinoma in a horseshoe kidney. Pathol Oncol Res 8 : 270-271, 2002.
 
8) Mesrobian HG, et al : Wilms tumor in horseshoe kidneys : a report from the National Wilms Tumor Study. J Urol 133 : 1002-1003, 1985.
PubMed
9) Hohenfellner M, et al : Tumor in the horseshoe kidney : clinical implications and review of embryogenesis. J Urol 147 : 1098-1102, 1992.
PubMed
10) Castro JE, Green NA : Complications of horseshoe kidney. Urology 6 : 344-347, 1975.
PubMed
11) Stroosma OB, et al : Transplanting horseshoe kidneys : a worldwide survey. J Urol 166 : 2039-2042, 2001.
PubMed
12) Abeshouse BS, Bhisitkul I : Crossed renal ectopia with and without fusion. Urol Int 9 : 63-91, 1959.
PubMed
13) Cook WA, Stephens FD : Fused kidneys : morphologic study and theory of embryogenesis. Birth Defects Orig Artic Ser 13 : 327-340, 1977.
PubMed
14) McDonald JH, McClellan DS : Crossed renal ectopia. Am J Surg 93 : 995-1002, 1957.
PubMed
15) Horai K, et al : A case of pancake kidney with a single ureter in the retroperitoneal space. Anat Sci Int 93 : 563-565, 2018.
PubMed
16) Harrison LH, et al : Incidence of anatomical variants in renal vasculature in the presence of normal renal function. Ann Surg 188 : 83-89, 1978.
PubMed
17) Jones KL, et al : Miscellaneous syndromes. In : Smith's Recognizable Patterns of Human Malformation, 8th ed (ed by Jones KL, et al), p816-865, Elsevier Saunders, Philadelphia, 2022.
 
P.210 掲載の参考文献
1) Stanasel I, Peters CA : Ectopic Ureter, Ureterocele, and Ureteral Anomalies. In : Campbell-Walsh-Wein Urology, 12th ed (ed by Partin AW, et al), p798-825, Saunders Elsevier, Philadelphia 2021.
 
2) Nepple KG, et al : Ureteral duplication, ectopy, and ureterocele. In : Pediatric Urology, 2nd ed (ed by Gearhart JP, et al), p337-352, Saunders Elsevier, Philadelphia, 2010.
 
3) Fehrenbaker LG, et al : Vesicoureteral reflux and ureteral duplication in children. J Urol 107 : 862-864, 1972. (DOI : 10.1016/s0022-5347 (17) 61160-1)
 
4) Barrett DM, et al : Problems and solutions in surgical treatment of 100 consecutive ureteral duplications in children. J Urol 114 : 126-130, 1975.
 
5) Gotoh T, et al : Single ectopic ureter. J Urol 129 : 271-274, 1983.
PubMed
6) Johnston JH : Problems in the diagnosis and management of ectopic ureters and ureteroceles. In : Problems in Paediatric Urology (ed by Johnston JH, Scholtmeijer RJ), p57-78, Excerpta Medica, Amsterdam, 1972.
 
7) Ghosh B, et al : Ectopic ureter draining into the uterus. Urol Ann 8 : 105-107, 2016.
PubMed
8) Weight CJ, et al : Single system ectopic ureter to rectum subtending solitary kidney and bladder agenesis in newborn male. Urology 68 : 1344.e1-1344.e3, 2006. (DOI : 10.1016/j.urology.2006.09.048)
 
9) Pereira BJ, et al : Zinner's syndrome : an up-to-date review of the literature based on a clinical case. Andrologia 41 : 322-330, 2009.
 
10) Snyder Ш HM : Anomalies of the ureter. In : Adult and Pediatric Urology, 3rd ed (ed by Gillenwater JY, et al), p2197-2231, Mosby, St.Louis, 1996.
 
P.214 掲載の参考文献
1) Nguyen HT, et al : The Society for Fetal Urology consensus statement on the evaluation and management of antenatal hydronephrosis. J Pediatr Urol 6 : 212-231, 2010.
 
2) 日本小児泌尿器科学会学術委員会編 : 小児先天性水腎症 (腎盂尿管移行部通過障害) 診療手引き 2016. 日本小児泌尿器科学会雑誌 25 (2) : 1-46, 2016.
 
3) Cain MP, et al : Symptomatic ureteropelvic junction obstruction in children in the era of prenatal sonography-is there a higher incidence of crossing vessels? Urology 57 : 338-341, 2001.
 
4) Bajpai M, et al : Prenatally diagnosed unilateral hydronephrosis : prognostic significance of plasma renin activity. J Urol 178 : 2580-2584, 2007.
PubMed
5) Grignon A, et al : Urinary tract dilatation in utero : classification and clinical applications. Radiology 160 : 645-647, 1986.
PubMed
6) Sairam S, et al : Natural history of fetal hydronephrosis diagnosed on mid-trimester ultrasound. Ultrasound Obstet Gynecol 17 : 191-196, 2001.
PubMed
7) Palmer LS, et al : Surgery versus observation for managing obstructive grade 3 to 4 unilateral hydronephrosis : a report from the Society for Fetal Urology. J Urol 159 : 222-228, 1998.
 
8) Conway JJ : "Well-tempered" diuresis renography : its historical development, physiological and technical pitfalls, and standardized technique protocol. Semin Nucl Med 22 : 74-84, 1992.
PubMed
9) 島田憲次, ほか : 周産期, 乳幼児期に発見される腎盂・腎盂尿管拡張の診断基準 (案) I. 超音波断層像を用いた腎盂・腎盂尿管拡張の記載方法 II. 利尿レノグラフィー実施のための標準プロトコール. 日本小児泌尿器科学会雑誌 8 : 186-189, 1999.
 
10) Piaggio LA, et al : Reoperative laparoscopic pyeloplasty in children : comparison with open surgery. J Urol 177 : 1878-1882, 2007.
PubMed
11) Jacobson DL, et al : Robot-Assisted Laparoscopic Reoperative Repair for Failed Pyeloplasty in Children : An Updated Series. J Urol 201 : 1005-1011, 2019.
 
12) Bansal UK, et al : Optimal Length of Follow-up for the Detection of Unsuccessful Pediatric Pyeloplasty : A Single-Center Experience. Front Pediatr 5 : 126, 2017.
PubMed
13) Park K, et al : Time course of hydronephrotic changes following unilateral pyeloplasty. J Pediatr Urol 9 : 779-783, 2013.
PubMed
14) Matsumoto F, et al : Delayed decrease in differential renal function after successful pyeloplasty in children with unilateral antenatally detected hydronephrosis. Int J Urol 14 : 488-490, 2007.
PubMed
15) Hsi RS, et al : National Trends in Followup Imaging after Pyeloplasty in Children in the United States. J Urol 194 : 777-782, 2015.
PubMed
P.218 掲載の参考文献
1) Hattori M, et al : End-stage renal disease in Japanese children : a nationwide survey during 2006-2011. Clin Exp Nephrol 19 : 933-938, 2015.
 
2) Toka HR, et al : Congenital anomalies of kidney and urinary tract. Semin Nephrol 30 : 374-386, 2010.
PubMed
3) 低形成・異形成腎を中心とした先天性腎尿路異常 (CAKUT) の腎機能障害進行抑制のためのガイドライン (「腎・泌尿器系の希少・難治性疾患群に関する診断基準・診療ガイドラインの確立」研究班編), 診断と治療社, 2016.
 
4) Neal A, Murphy L : "Uni-papillary kidney" : an unusual developmental abnormality of the kidney. J Coll Radiol Aust 4 : 81-83, 1960.
 
5) 酒徳治三郎, 北山太一 : Solitary "Uni-papillary Kidney" の1例. 泌尿器科紀要 10 : 349-355, 1964.
 
6) Toppercer A : Unipapillary human kidney associated with urinary and genital abnormalities. Urology 16 : 194-196, 1980.
PubMed
7) Demos TC, et al : Unicaliceal kidney associated with posterior urethral valves. J Urol 129 : 1034-1035, 1983.
PubMed
8) Kaneto H, et al : Unicalyceal kidney associated with ureteral anomalies. Eur Urol 32 : 328-331, 1997.
PubMed
9) Jolly BB, Jolly M : Unipapillary kidney : a case report. Urol Int 54 : 175-176, 1995.
 
10) Morimoto S, et al : Solitary calix in siblings. J Urol 122 : 690-691, 1979.
PubMed
11) Kosoku A, et al : Successful Kidney Transplantation in a Patient with Unipapillary Kidney. Urol Int 102 : 243-246, 2019.
 
P.221 掲載の参考文献
1) Ask-upmark E : About juvenile malignant nephrosclerosis and their relationship to disturbances in renal development. Acta Path Microbiol Scand 6 : 383-442, 1929.
 
2) 久富隆太郎, ほか : 腎結石を伴ったAsk-Upmark症候群の一例. 日本小児高血圧研究会誌 13 : 7-10, 2016.
 
3) 木村敏之 : 分節状腎低形成, Ask-Upmark症候群. 別冊日本臨牀腎臓症候群 (第2版) 上, p518-520, 日本臨牀社, 2012.
 
4) Arant BS, et al : Segmental "hypoplasia" of the kidney (Ask-Upmark). J Pediatr 95 : 931-939, 1979.
 
5) 稲葉進 : 節状腎低形成. 別冊日本臨牀腎臓症候群 (上), p397-399, 1997.
 
6) Babin J, et al : The Ask-Upmark kidney : a curable cause of hypertension in young patients. J Hum Hypertens 19 : 315-316, 2005.
 
7) Komatsu H, et al : Imaging of bilateral Ask-Upmark kidney. Clin Exp Nephrol 22 : 1437-1438, 2018.
 
8) Marwali MR, Rossi NF : Ask-Upmark kidney associated with renal and extrarenal arterial aneurysms. Am J Kidney Dis 33 : e4, 1999.
PubMed
9) Sugimoto T, et al : Renal segmental hypoplasia, Ask-Upmark kidney, in a patient with adult-onset hypertension. Intern Med 45 : 1101-1102, 2006.
 
10) 多田実 : Ask-Upmark症候群. 小児科診療 79 (増刊, 小児の症候群腎・泌尿器) : 293, 2016.
 
11) Shindo S, et al : Evolution of renal segmental atrophy (Ask-Upmark kidney) in children with vesicoureteric reflux : radiographic and morphologic studies. J Pediatr 102 : 847-854, 1983.
 

VII 嚢胞性腎疾患

P.227 掲載の参考文献
1) Alstrom CH, et al : Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from Laurence-Moon-Bardet-Biedl syndrome : A clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl 129 : 1-35, 1959.
 
2) Tahani N, et al : Consensus clinical management guidelines for Alstrom syndrome. Orphanet J Rare Dis 15 : 253, 2020.
PubMed
3) Hearn T, et al : Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 54 : 1581-1587, 2005.
PubMed
4) Collin GB, et al : Alms1-disrupted mice recapitulate human Alstrom syndrome. Hum Mol Genet 14 : 2323-2333, 2005.
PubMed
5) Marshall JD, et al : New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 165 : 675-683, 2005.
PubMed
6) Marshall JD, et al : Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat 28 : 1114-1123, 2007.
PubMed
7) Marshall JD, et al : Alstrom syndrome : genetics and clinical overview. Curr Genomics 12 : 225-235, 2011.
PubMed
8) Marshall JD, et al : Alstrom Syndrome : Mutation Spectrum of ALMS1. Hum Mutat 36 : 660-668, 2015.
PubMed
9) Torimitsu T, et al : Amiodarone-induced multiple organ damage in an Alstrom syndrome patient with end-stage renal disease and hepatic cirrhosis. CEN Case Rep 11 : 11-16, 2022.
 
10) Baig S, et al : Defining renal phenotype in Alstrom syndrome. Nephrol Dial Transplant 35 : 994-1001, 2020.
PubMed
11) Marshall JD, et al : Alstrom syndrome. Eur J Hum Genet 15 : 1193-1202, 2007.
PubMed
P.230 掲載の参考文献
1) Forsythe E, et al : Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. J Am Soc Nephrol 28 : 963-970, 2017.
PubMed
2) Hirano M, et al : The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. PLoS One 10 : e0136317, 2015.
PubMed
3) Daiger SP, et al : The Retinal Information Network, The University of Texas Health Science Center, Houston, Texas, USA.
 
4) Forsythe E, Beales PL : Bardet-Biedl syndrome. Eur J Hum Genet 21 : 8-13, 2013.
PubMed
5) Beales PL, et al : New criteria for improved diagnosis of Bardet-Biedl syndrome : results of a population survey. J Med Genet 36 : 437-446, 1999.
PubMed
6) Grace C, et al : Energy metabolism in Bardet-Biedl syndrome. Int J Obes Relat Metab Disord 27 : 1319-1324, 2003.
PubMed
7) Imhoff O, et al : Bardet-Biedl syndrome : a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol 6 : 22-29, 2011.
 
8) O'Dea D, et al : The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis 27 : 776-783, 1996.
 
9) Green JS, et al : The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321 : 1002-1009, 1989.
PubMed
10) Pereiro I, et al : Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alstrom syndrome. Eur J Hum Genet 19 : 485-488, 2011.
 
11) Forsythe E, et al : Managing Bardet-Biedl Syndrome-Now and in the Future. Front Pediatr 6 : 23, 2018.
PubMed
P.236 掲載の参考文献
1) Joubert M, et al : Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19 : 813-825, 1969.
 
2) Boltshauser E, Isler W : Joubert syndrome : episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie 8 : 57-66, 1977.
PubMed
3) Saraiva JM, Baraitser M : Joubert syndrome : a review. Am J Med Genet 43 : 726-731, 1992.
PubMed
4) Maria BL, et al : "Joubert syndrome" revisited : key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 12 : 423-430, 1997.
PubMed
5) Gleeson JG, et al : Molar tooth sign of the midbrain-hindbrain junction : occurrence in multiple distinct syndromes. Am J Med Genet A 125A : 125-134 ; discussion 117, 2004.
 
6) Parisi MA, et al : The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet 75 : 82-91, 2004.
 
7) Romani M, et al : Joubert syndrome : congenital cerebellar ataxia with the molar tooth. Lancet Neurol 12 : 894-905, 2013.
PubMed
8) ジュベール症候群関連疾患 (Joubert Syndrome and related disorders : JSRD) 診療ガイドライン 2018 (厚生労働科学研究費補助金事業「ジュベール症候群とジュベール症候群関連疾患の診療支援と診療ガイドライン作成・普及のための研究」研究班 (研究代表者伊藤雅之) 編), 2018.
 
P.239 掲載の参考文献
1) 望月俊雄 : 嚢胞性腎疾患. 日本腎臓学会誌 57 : 774-782, 2015.
 
2) 加藤洋平 : 繊毛内タンパク質輸送装置の構築様式と機能. 生化学 90 : 766-780, 2018.
 
3) NORD (National Organization for Rare Disorders) : Meckel Syndrome. [https://rarediseases.org/rare-diseases/meckel-syndrome/] (2022年8月閲覧)
 
4) McConnachie DJ, et al : Ciliopathies and the Kidney : A Review. Am J Kidney Dis 77 : 410-419, 2021.
PubMed
5) Orphanet [https://www.orpha.net/consor/cgi-bin/index.php?lng=EN] (2022年8月閲覧)
 
6) Parelkar SV, et al : Meckel-Gruber syndrome : A rare and lethal anomaly with review of literature. J Pediatr Neurosci 8 : 154-157, 2013.
PubMed
7) Barisic I, et al : Meckel-Gruber Syndrome : a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet 23 : 746-752, 2015.
 
8) Aydin Ozturk P, et al : Meckel-Gruber Syndrome : A Case Who Lived for 5 Months. Pediatr Neurosurg 54 : 277-280, 2019.
PubMed
9) Hartill V, et al : Meckel-Gruber Syndrome : An Update on Diagnosis, Clinical Management, and Research Advances. Front Pediatr 5 : 244, 2017.
 
P.243 掲載の参考文献
1) Harris PC, Torres VE : Polycystic kidney disease. Annu Rev Med 60 : 321-337, 2009.
PubMed
2) Gurrieri F, et al : Oral-facial-digital syndromes : review and diagnostic guidelines. Am J Med Genet A 143A : 3314-3323, 2007.
PubMed
3) Romio L, et al : OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. J Am Soc Nephrol 14 : 680-689, 2003.
 
4) Feather SA, et al : The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3. Hum Mol Genet 6 : 1163-1167, 1997.
PubMed
5) Ferrante MI, et al : Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 68 : 569-576, 2001.
PubMed
6) Morleo M, Franco B : OFD Type I syndrome : lessons learned from a rare ciliopathy. Biochem Soc Trans 48 : 1929-1939, 2020.
PubMed
7) Macca M, Franco B : The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet 151C : 318-325, 2009.
PubMed
8) Iijima T, et al : Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease. Hum Pathol 55 : 24-29, 2016.
PubMed
9) Iijima T, et al : An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns. Intern Med 58 : 2989-2992, 2019.
PubMed
P.247 掲載の参考文献
1) Senior B, et al : Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol 52 : 625-633, 1961.
PubMed
2) Loken AC, et al : Hereditary renal dysplasia and blindness. Acta Paediatr (Stockh) 50 : 177-184, 1961.
PubMed
3) National Organization for Rare Disorders (NORD) : Senior Loken syndrome, 2019. [https://rarediseases.org/rare-diseases/senior-loken-syndrome/]
 
4) 杉本圭相 : 線毛異常と嚢胞性腎疾患ネフロン癆. 腎と透析 87 : 749-754, 2019.
 
5) 堤崚太郎, ほか : 網膜視細胞における線毛内輸送機構IFTと網膜変性疾患. 腎と透析 87 : 723-728, 2019.
Medical*Online
6) Luo F, Tao YH : Nephronophthisis : A review of genotype-phenotype correlation. Nephrology (Carlton) 23 : 904-911, 2018.
PubMed
7) Georges B, et al : Late-onset renal failure in Senior-Loken syndrome. Am J Kidney Dis 36 : 1271-1275, 2000.
PubMed
8) Coussa RG, et al : Leber Congenital Amaurosis. [https://www.aao.org/disease-review/leber-congenital-amaurosis-4]
 
9) Dolz-Marco R, et al : Chapter 5 - Dystrophies. In : Choroidal Disorders (ed by Chhablani J, Ruiz-Medrano J), p63-72, Academic Press, 2017.
 
10) Giridhar S, et al : Twins with senior-Loken syndrome. Indian J Pediatr 73 : 1041-1043, 2006.
PubMed
11) Tong H, et al : Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Loken syndrome. Nephrology (Carlton) 18 : 838-842, 2013.
PubMed
12) 森貞直哉, ほか : ネフロン癆の最近の知見. 日本腎臓学会誌 61 : 1102-1107, 2019.
 
13) 井藤奈央子, ほか : 髄質嚢胞性腎疾患研究の進歩. 日本腎臓学会誌 60 : 543-552, 2018.
 
14) Snoek R, et al : NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD. J Am Soc Nephrol 29 : 1772-1779, 2018.
PubMed
15) Hirai Y, et al : Senior-Loken syndrome misdiagnosed as nephrosclerosis related to hypertensive disorders of pregnancy. BMJ Case Rep 13 : e236137, 2020.
PubMed
P.251 掲載の参考文献
1) Lamiell JM, et al : von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore) 68 : 1-29, 1989.
PubMed
2) Maher ER, et al : von Hippel-Lindau disease : a clinical and scientific review. Eur J Hum Genet 19 : 617-623, 2011.
 
3) Seizinger BR, et al : Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 332 : 268-269, 1988.
 
4) Crossey PA, et al : Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus. Hum Mol Genet 2 : 279-282, 1993.
PubMed
5) Latif F, et al : Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260 : 1317-1320, 1993.
PubMed
6) Lonser RR, et al : von Hippel-Lindau disease. Lancet 361 : 2059-2067, 2003.
PubMed
7) 執印太郎, ほか : von Hippel-Lindau病全国疫学調査における腎癌の臨床的解析. 日本泌尿器科学会雑誌 103 : 552-556, 2012.
 
8) 執印太郎, ほか : 本邦von Hippel-Lindau病に伴う褐色細胞腫の特徴 : 全国疫学調査とその解析結果. 日本泌尿器科学会雑誌 103 : 557-561, 2012.
 
9) Maxwell PH, et al : The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 399 : 271-275, 1999.
PubMed
10) Stebbins CE, et al : Structure of the VHL-ElonginC-ElonginB complex : implications for VHL tumor suppressor function. Science 284 : 455-461, 1999.
PubMed
11) Ivan M, et al : HIFalpha targeted for VHL-mediated destruction by proline hydroxylation : implications for O2 sensing. Science 292 : 464-468, 2001.
PubMed
12) Jaakkola P, et al : Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation. Science 292 : 468-472, 2001.
 
13) Pouyssegur J, et al : Hypoxia signalling in cancer and approaches to enforce tumour regression. Nature 441 : 437-443, 2006.
PubMed
14) Kelly BD, et al : Cell type-specific regulation of angiogenic growth factor gene expression and induction of angiogenesis in nonischemic tissue by a constitutively active form of hypoxia-inducible factor 1. Circ Res 93 : 1074-1081, 2003.
PubMed
15) Ceradini DJ, et al : Progenitor cell trafficking is regulated by hypoxic gradients through HIF-1 induction of SDF-1. Nat Med 10 : 858-864, 2004.
PubMed
16) Kondo K, et al : Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein. Cancer Cell 1 : 237-246, 2002.
 
17) Shen C, et al : Genetic and functional studies implicate HIF1α as a 14q kidney cancer suppressor gene. Cancer Discov 1 : 222-235, 2011.
 
18) Chen W, et al : Targeting renal cell carcinoma with a HIF-2 antagonist. Nature 539 : 112-117, 2016.
PubMed
19) Cho H, et al : On-target efficacy of a HIF-2α antagonist in preclinical kidney cancer models. Nature 539 : 107-111, 2016.
 
20) Choueiri TK, et al : Inhibition of hypoxia-inducible factor-2α in renal cell carcinoma with belzutifan : a phase 1 trial and biomarker analysis. Nat Med 27 : 802-805, 2021.
 
21) Jonasch E, et al : Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease. N Engl J Med 385 : 2036-2046, 2021.
PubMed
22) フォン・ヒッペル・リンドウ (VHL) 病診療ガイドライン (執印太郎編), 中外医学社, 2011.
 
23) Shinohara N, et al : Nephron sparing surgery for renal cell carcinoma in von Hippel-Lindau disease. J Urol 154 : 2016-2019, 1995.
PubMed
24) Grubb RL, et al : Management of von Hippel-Lindau-associated kidney cancer. Nat Clin Pract Urol 2 : 248-255, 2005.
 
P.257 掲載の参考文献
1) Potter DE, et al : Treatment of end-stage renal disease in children : a 15-year experience. Kidney Int 18 : 103-109, 1980.
PubMed
2) Pistor K, et al : Children with chronic renal failure in the Federal Republic of Germany : II. Primary renal diseases, age and intervals from early renal failure to renal death. Arbeitsgemeinschaft fur Padiatrische Nephrologie. Clin Nephrol 23 : 278-284, 1985.
PubMed
3) ネフロン癆. 令和3年度厚生労働科学研究費補助金 (難治性疾患政策研究事業). 「小児腎領域の希少・難治性疾患群の診療・研究体制の発展」研究班. [https://www.nanbyou.or.jp/wpcontent/uploads/upload_files/File/335-202111-kijyun.pdf.]
 
4) Halbritter J, et al : Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet 132 : 865-884, 2013.
 
5) Salomon R, et al : Nephronophthisis. Pediatr Nephrol 24 : 2333-2344, 2009.
PubMed
6) Reiter JF, Leroux MR : Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol 18 : 533-547, 2017.
PubMed
7) Sugimoto K, et al : Clinical and genetic characteristics of Japanese nephronophthisis patients. Clin Exp Nephrol 20 : 637-649, 2016.
PubMed
8) 竹村司 : Nephrocystin. 腎と透析 63 : 547-549, 2007.
Medical*Online
9) Konig J, et al : Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephrol 12 : 1974-1983, 2017.
PubMed
10) Braun DA, et al : Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89 : 468-475, 2016.
PubMed
11) Stokman MF, et al : Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. Pediatr Nephrol 33 : 1701-1712, 2018.
PubMed
12) Lechtreck KF : IFT-Cargo Interactions and Protein Transport in Cilia. Trends Biochem Sci 40 : 765-778, 2015.
PubMed
13) Hurd TW, et al : Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. J Am Soc Nephrol 24 : 967-977, 2013.
 
14) Larsen CP, et al : Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy. Hum Pathol 81 : 71-77, 2018.
 
15) Hamiwka LA, et al : Outcomes of kidney transplantation in children with nephronophthisis : an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry. Pediatr Transplant 12 : 878-882, 2008.
PubMed
16) Kim J, et al : Long-term survival of kidney transplants in pediatric patients with nephronophthisis. Transplantation 104 : S554, 2020.
 
17) Tayfur AC, et al : Follow-up of patients with juvenile nephronophthisis after renal transplantation : a single center experience. Transplant Proc 43 : 847-849, 2011.
PubMed
P.262 掲載の参考文献
1) 有馬正高, ほか : 脳形成異常, 多発性嚢胞腎, 網膜色素上皮異常, 片側性眼瞼下垂を示す一家族性症候群. 脳と発達 3 : 330-331, 1971.
 
2) Romani M, et al : Joubert syndrome : congenital cerebellar ataxia with the molar tooth. Lancet Neurol 12 : 894-905, 2013.
PubMed
3) Itoh M, et al : Nationwide survey of Arima syndrome : revised diagnostic criteria from epidemiological analysis. Brain Dev 36 : 388-393, 2014.
PubMed
4) Itoh M, et al : Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium ; clinical comparison with Joubert syndrome and its related diseases. Brain Dev 40 : 259-267, 2018.
PubMed
5) Sattar S, Gleeson JG : The ciliopathies in neuronal development : a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol 53 : 793-798, 2011.
PubMed
6) Cheng YZ, et al : Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. PLoS One 7 : e44975, 2012.
PubMed
7) Chang B, et al : In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 15 : 1847-1857, 2006.
 
8) Hynes AM, et al : Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis. Proc Natl Acad Sci U S A 111 : 9893-9898, 2014.
PubMed
9) ジュベール症候群関連疾患 (JSRD) 診療ガイドライン 2018 (厚生労働科学研究費補助金事業「ジュベール症候群とジュベール症候群関連疾患の診療支援と診療ガイドライン作成・普及のための研究」研究班編), 2018. [https://www.nanbyou.or.jp/wp-content/uploads/upload_files/JSRDGuideline2018.pdf]
 
10) Sinha S, Chen JK : Purmorphamine activates the Hedgehog pathway by targeting Smoothened. Nat Chem Biol 2 : 29-30, 2006.
PubMed
11) Srivastava S, et al : A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies. Hum Mol Genet 26 : 4657-4667, 2017.
 
12) Molinari E, et al : Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts. Sci Rep 9 : 10828, 2019.
PubMed
13) Dooley SJ, et al : Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA. Mol Ther Nucleic Acids 12 : 294-308, 2018.
PubMed
14) Zhang W, et al : Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis. Hum Gene Ther 29 : 42-50, 2018.
 
15) Burnight ER, et al : Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration. Mol Ther 25 : 1999-2013, 2017.
PubMed
16) Gilbert RD, et al : Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease. Pediatr Nephrol 32 : 893-896, 2017.
PubMed
P.267 掲載の参考文献
1) Sato A, et al : Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex. Nat Commun 3 : 1292, 2012.
PubMed
2) Northrup H, et al : Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendation. Pediatr Neurol 123 : 50-66, 2021.
 
3) Osborne JP, et al : Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 615 : 125-127, 1991.
PubMed
4) Webb DW, Osborne JP : Non-penetrance in tuberous sclerosis. J Med Genet 28 : 417-419, 1991.
PubMed
5) Wataya-Kaneda M, et al : Trends in the prevalence of tuberous sclerosis complex manifestations : an epidemiological study of 166 Japanese patients. PLoS One 8 : e63910, 2013.
PubMed
6) Schwartz RA, et al : Tuberous sclerosis complex : advances in diagnosis, genetics, and management. J Am Acad Dermatol 57 : 189-202, 2007.
PubMed
7) European Chromosome 16 Tuberous Sclerosis Consortium : Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75 : 1305-1315, 1993.
PubMed
8) van Slegtenhorst M, et al : Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277 : 805-808, 1997.
PubMed
9) Lamb RF, et al : The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Nat Cell Biol 2 : 281-287, 2000.
PubMed
10) Budde K, Gaedeke J : Tuberous sclerosis complex-associated angiomyolipomas : focus on mTOR inhibition. Am J Kidney Dis 59 : 276-283, 2012.
PubMed
11) Grantham JJ : Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med 359 : 1477-1485, 2008.
PubMed
12) Longa L, et al : A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 12 : 1900-1907, 1997.
 
13) Ewalt DH, et al : Renal lesion growth in children with tuberous sclerosis complex. J Urol 160 : 141-145, 1998.
PubMed
14) Castagnetti M, et al : Urological counseling and followup in pediatric tuberous sclerosis complex. J Urol 178 : 2155-2159, 2007.
PubMed
15) エビデンスに基づく多発性嚢胞腎 (PKD) 診療ガイドライン 2020 (厚生労働科学研究費補助金難治性疾患等政策研究事業 (難治性疾患政策研究事業) 難治性腎障害に関する調査研究班編, 成田一衛監), p6, 東京医学社, 2020.
 
P.271 掲載の参考文献
1) Imam TH, et al : Medullary Sponge Kidney : Current Perspectives. Int J Nephrol Renovasc Dis 12 : 213-218, 2019.
PubMed
2) Gambaro G, et al : Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease) : a Padua Medical School discovery in the 1930s. Kidney Int 69 : 663-670, 2006.
PubMed
3) Fabris A, et al : Medullary sponge kidney : state of the art. Nephrol Dial Transplant 28 : 1111-1119, 2013.
PubMed
4) Xiang H, et al : Medullary sponge kidney. J Med Imaging Radiat Oncol 62 (suppl 1) : 93-94, 2018.
 
5) Sanchez MP, et al : Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature 382 : 70-73, 1996.
PubMed
6) Chatterjee R, et al : Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations. Hum Genet 131 : 1725-1738, 2012.
 
7) 東原英二 : 髄質海綿腎 (medullary sponge kidney). 多発性嚢胞腎～進化する治療最前線 (東原英二編), p334-348, 医薬ジャーナル社, 2015.
 
8) Fabris A, et al : Bone disease in medullary sponge kidney and effect of potassium citrate treatment. Clin J Am Soc Nephrol 4 : 1974-1979, 2009.
PubMed
9) Geavlete P, et al : The impact of modern endourological techniques in the treatment of a century old disease--medullary sponge kidney with associated nephrolithiasis. J Med Life 6 : 482-485, 2013.
PubMed
10) Evan AP, et al : Biopsy proven medullary sponge kidney : clinical findings, histopathology, and role of osteogenesis in stone and plaque formation. Anat Rec (Hoboken) 298 : 865-877, 2015.
PubMed
11) 八木澤隆 : 髄質海綿腎. 腎と透析 77 : 774-777, 2014.
Medical*Online
12) Ginalski JM, et al : Does medullary sponge kidney cause nephrolithiasis? AJR Am J Roentgenol 155 : 299-302, 1990.
PubMed
13) Fabris A, et al : Long-term treatment with potassium citrate and renal stones in medullary sponge kidney. Clin J Am Soc Nephrol 5 : 1663-1668, 2010.
PubMed
P.275 掲載の参考文献
1) Dunnill MS, et al : Acquired cystic disease of the kidneys : a hazard of long-term intermittent maintenance haemodialysis. J Clin Pathol 30 : 868-877, 1977.
PubMed
2) Levine E : Acquired cystic kidney disease. Radiol Clin North Am 34 : 947-964, 1996.
PubMed
3) Narasimhan N, et al : Clinical characteristics and diagnostic considerations in acquired renal cystic disease. Kidney Int 30 : 748-752, 1986.
PubMed
4) Ishikawa I, et al : Twenty-year follow-up of acquired renal cystic disease. Clin Nephrol 59 : 153-159, 2003.
PubMed
5) Matson MA, Cohen EP : Acquired cystic kidney disease : occurrence, prevalence, and renal cancers. Medicine (Baltimore) 69 : 217-226, 1990.
PubMed
6) Lien YH, et al : Association of cyclosporin A with acquired cystic kidney disease of the native kidneys in renal transplant recipients. Kidney Int 44 : 613-616, 1993.
PubMed
7) Chung WY, et al : Acquired cystic disease in chronically rejected renal transplants. J Am Soc Nephrol 2 : 1298-1301, 1992.
PubMed
8) Truong LD, et al : Renal cystic neoplasms and renal neoplasms associated with cystic renal diseases : pathogenetic and molecular links. Adv Anat Pathol 10 : 135-159, 2003.
PubMed
9) Grantham JJ : Acquired cystic kidney disease. Kidney Int 40 : 143-152, 1991.
PubMed
10) Ishihara H, et al : Outcome of advanced renal cell carcinoma arising in end-stage renal disease : comparison with sporadic renal cell carcinoma. Clin Exp Nephrol 25 : 674-682, 2021.
PubMed
11) Choyke PL : Acquired cystic kidney disease. Eur Radiol 10 : 1716-1721, 2000.
PubMed
12) Katabathina VS, et al : Adult renal cystic disease : a genetic, biological, and developmental primer. Radiographics 30 : 1509-1523, 2010.
PubMed
13) Xie Y, et al : Spontaneous perirenal hemorrhage in hemodialysis patient treated with selective embolization : A case series and review of the literature. Hemodial Int 22 : 222-227, 2018.
PubMed
14) Ishikawa I : Present status of renal cell carcinoma in dialysis patients in Japan : questionnaire study in 2002. Nephron Clin Pract 97 : c11-16, 2004.
PubMed
15) 腎癌診療ガイドライン 2017年版 (日本泌尿器科学会編), メディカルレビュー社, 2017.
 
P.279 掲載の参考文献
1) Jackman RJ, Stevens GM : Benign hemorrhagic renal cyst. Nephrotomography, renal arteriography, and cyst puncture. Radiology 110 : 7-13, 1974.
PubMed
2) 村岡敬介, 長田幸夫 : 嚢胞性腎疾患出血性腎嚢胞. 別冊日本臨牀腎臓症候群 (上), p422-424, 日本臨牀社, 1997.
 
3) 石井亜矢乃, ほか : 嚢胞内に発生した腎癌を思わせた出血性腎嚢胞の1例. 西日本泌尿器科 61 : 539-541, 1999.
Medical*Online
4) 伊藤英, ほか : von Willebrand病患者に対する腎部分切除術の経験. 日本泌尿器科学会雑誌 110 : 196-200, 2019.
 
5) 小川敏英 : 脳血管障害. 脳脊髄のMRI [第2版] (細谷貴亮, ほか編), p215-230, メディカル・サイエンス・インターナショナル, 2009.
 
6) Roubidoux MA : MR imaging of hemorrhage and iron deposition in the kidney. Radiographics 14 : 1033-1044, 1994.
PubMed
7) Israel GM, Bosniak MA : An update of the Bosniak renal cyst classification system. Urology 66 : 484-488, 2005.
PubMed
8) O'Malley RL, et al : Bosniak category IIF designation and surgery for complex renal cysts. J Urol 182 : 1091-1095, 2009.
 
9) Schoots IG, et al : Bosniak Classification for Complex Renal Cysts Reevaluated : A Systematic Review. J Urol 198 : 12-21, 2017.
PubMed
10) Silverman SG, et al : Bosniak Classification of Cystic Renal Masses, Version 2019 : An Update Proposal and Needs Assessment. Radiology 292 : 475-488, 2019.
PubMed
11) Harris RD, et al : The bloody renal cyst aspirate : a diagnostic dilemma. J Urol 114 : 832-835, 1975.
PubMed
12) 高橋哲, 杉村和朗 : 腎細胞がんと良性腫瘍との鑑別. 臨床腫瘍プラクティス 6 : 31-37, 2010.
 
P.284 掲載の参考文献
1) エビデンスに基づく多発性嚢胞腎 (PKD) 診療ガイドライン 2020, 東京医学社, 2020.
 
2) Higashihara E, et al : Prevalence and renal prognosis of diagnosed autosomal dominant polycystic kidney disease in Japan. Nephron 80 : 421-427, 1998.
PubMed
3) Willey C, et al : Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA : 2013-2015. Kidney Dis (Basel) 5 : 107-117, 2019.
PubMed
4) Tokiwa S, et al : The relationship between renal volume and renal function in autosomal dominant polycystic kidney disease. Clin Exp Nephrol 15 : 539-545, 2011.
PubMed
5) Chapman AB, et al : Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 7 : 479-486, 2012.
PubMed
6) Torres VE, et al : Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med 367 : 2407-2418, 2012.
PubMed
7) Muto S, et al : The effect of tolvaptan on autosomal dominant polycystic kidney disease patients : a subgroup analysis of the Japanese patient subset from TEMPO 3 : 4 trial. Clin Exp Nephrol 19 : 867-877, 2015.
 
8) Chebib FT, et al : A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan. J Am Soc Nephrol 29 : 2458-2470, 2018.
PubMed
9) Soroka S, et al : Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease. Can J Kidney Health Dis 5 : 2054358118801589, 2018.
PubMed
P.288 掲載の参考文献
1) Arnold EP : Pararenal pseudocyst. Br J Urol 44 : 40-46, 1972.
PubMed
2) Meyers MA : Uriniferous perirenal pseudocyst : new observations. Radiology 117 : 539-545, 1975.
PubMed
3) McInerney D, et al : Urinoma. Clin Radiol 28 : 345-351, 1977.
PubMed
4) Twersky J, et al : Peripelvic extravasation, urinoma formation and tumor obstruction of the ureter. J Urol 116 : 305-307, 1976.
PubMed
5) Harada J, et al : Spontaneous intraperitoneal renal rupture with urinoma formation in the fetus. Urol Case Rep 37 : 101697, 2021.
PubMed
6) Thompson IM, et al : Experiences with 16 cases of pararenal pseudocyst. J Urol 116 : 289-292, 1976.
PubMed
P.290 掲載の参考文献
1) Glassberg KI : Parapelvic and renal sinus cysts. In : Campbell-Walsh Urology, 9th ed (ed by Wein AJ, et al), p3354-3358, WB Saunders, Philadelphia, 2007.
 
2) 土岐清秀, 高原史郎 : 傍腎盂嚢胞. 多発性嚢胞腎-遺伝子からベッドサイドまで- (小出輝, 東原英二編), p214-217, 南山堂, 2001.
 
3) 香村衡一 : 腎洞性嚢胞と傍腎盂嚢胞, 腎盂周囲嚢胞. 多発性嚢胞腎の全て (東原英二監), p282, インターメディカ, 2006.
 
4) Murray KK, McLellan GL : Renal peripelvic lymphangiectasia : appearance at CT. Radiology 180 : 455-456, 1991.
PubMed
5) Amis ES, Cronan JJ : The renal sinus : an imaging review and proposed nomenclature for sinus cysts. J Urol 139 : 1151-1159, 1988.
PubMed
6) Jordan WP : Peripelvic cysts of the kidney. J Urol 87 : 97-101, 1962.
PubMed
7) Wahlqvist L : Cystic disorders of the kidney : review of pathogenesis and classification. J Urol 97 : 1-6, 1967.
PubMed
8) Kutcher R, et al : Renal peripelvic multicystic lymphangiectasia. Urology 30 : 177-179, 1987.
PubMed
9) Wani NA, et al : Perinephric fluid collections due to renal lymphangiectasia. Am J Kidney Dis 57 : 347-351, 2011.
PubMed
10) Vela-Navarrete R, Garcia Robledo A : Polycystic disease of the renal sinus : structural characteristics. J Urol 129 : 700-703, 1983.
PubMed
11) 藤田潔, ほか : 腎洞の嚢胞性疾患について-parapelvic cyst とperipelvic cystは同じものか-. 西日本泌尿器科 58 : 120-123, 1996.
Medical*Online
P.294 掲載の参考文献
1) Glassberg KI : Renal dysplasia and cystic disease of the kidney. In : Campbell's Urology (ed by Walsh PC, et al), p1485-1486, WB Saunders, Philadelphia, 1992.
 
2) 南武, ほか : Parapelvic cyst (1症例並びに文献的考察). 泌尿器科紀要 11 : 750-756, 1965.
 
3) Amis ES, Cronan JJ : The renal sinus : an imaging review and proposed nomenclature for sinus cysts. J Urol 139 : 1151-1159, 1988.
PubMed
4) Ries M, et al : Parapelvic kidney cysts : a distinguishing feature with high prevalence in Fabry disease. Kidney Int 66 : 978-982, 2004.
PubMed
5) 久保寺聡, 上野精 : 腎杯周囲嚢胞, 傍腎盂嚢胞. 別冊日本臨牀腎臓症候群 (上), p439-440, 日本臨牀社, 1997.
 
6) Barrie HJ : Paracalyceal cysts of the renal sinus. Am J Pathol 29 : 985-991, 1953.
PubMed
7) Jordan WP : Peripelvic cysts of the kidney. J Urol 87 : 97-101, 1962.
PubMed
8) Lindsey JR : Lymphangiectasia simulating polycystic disease. J Urol 104 : 658-662, 1970.
 
9) Olanescu G, et al : Parapelvic cyst. Urol Int 8 : 228-233, 1959.
 
10) Allen RP : X-ray diagnosis of renal cystic disease in infants and children. Rocky Mt Med J 59 : 33-36, 1962.
PubMed
11) Evans AT, Coughlin JP : Urinary obstruction due to renal cysts. J Urol 103 : 277-280, 1970.
PubMed
12) 斎藤清, ほか : 傍腎盂嚢胞による腎機能障害. 西日本泌尿器科 54 : 1025-1028, 1992.
Medical*Online
13) Chan JC, Kodroff MB : Hypertension and hematuria secondary to parapelvic cyst. Pediatrics 65 : 821-823, 1980.
PubMed
14) 西川泰世, ほか : 経皮的腎嚢胞穿刺とエタノール注入. 日本泌尿器科学会雑誌 83 : 1448-1451, 1992.
 
15) 黒坂眞二, ほか : 腹腔鏡下腎嚢胞開窓術. 泌尿器科紀要 51 : 1-4, 2005.
 
P.297 掲載の参考文献
1) Wulfsohn MA : Pyelocaliceal diverticula. J Urol 123 : 1-8, 1980.
PubMed
2) Timmons JW, et al : Caliceal diverticulum. J Urol 114 : 6-9, 1975.
PubMed
3) Hubner W, Porpaczy P : Treatment of caliceal calculi. Br J Urol 66 : 9-11, 1990.
PubMed
4) Lister J, Singh H : Pelvicalyceal cysts in children. J Pediatr Surg 8 : 901-905, 1973.
 
5) Jones JA, et al : The roles of extracorporeal shock wave lithotripsy and percutaneous nephrostolithotomy in the management of pyelocaliceal diverticula. J Urol 146 : 724-727, 1991.
PubMed
6) 松崎章二 : 腎杯憩室内milk of calcium renal stoneの1例. 泌尿器科紀要 34 : 661-664, 1988.
 
7) Sasagawa I, et al : Structural studies on milk of calcium in calyceal diverticulum. Urol Int 44 : 375-378, 1989.
PubMed
8) Frank RG : Rupture of a large calyceal diverticulum. Urology 49 : 265-266, 1997.
PubMed
9) Ito H, et al : Systematic Review of Caliceal Diverticulum. J Endourol 32 : 961-972, 2018.
PubMed
10) Rapp DE, Gerber GS : Management of caliceal diverticula. J Endourol 18 : 805-810, 2004.
PubMed
11) Batter SJ, Dretler SP : Ureterorenoscopic approach to the symptomatic caliceal diverticulum. J Urol 158 : 709-713, 1997.
 
12) Sejiny M, et al : Efficacy of flexible ureterorenoscopy with holmium laser in the management of stone-bearing caliceal diverticula. J Endourol 24 : 961-967, 2010.
PubMed
13) Kim SC, et al : Percutaneous nephrolithotomy for caliceal diverticular calculi : a novel single stage approach. J Urol 173 : 1194-1198, 2005.
PubMed
14) Waxman SW, Winfield HN : Laparoscopic management of caliceal diverticulum. J Endourol 23 : 1731-1732, 2009.
PubMed
P.303 掲載の参考文献
1) Eckardt KU, et al : Autosomal dominant tubulointerstitial kidney disease : diagnosis, classification, and management--A KDIGO consensus report. Kidney Int 88 : 676-683, 2015.
PubMed
2) Bleyer AJ, et al : Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol 9 : 527-535, 2014.
PubMed
3) Bolar NA, et al : Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. Am J Hum Genet 99 : 174-187, 2016.
PubMed
4) Ekici AB, et al : Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney Int 86 : 589-599, 2014.
PubMed
5) Rampoldi L, et al : Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet 12 : 3369-3384, 2003.
PubMed
6) Hart TC, et al : Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39 : 882-892, 2002.
PubMed
7) Vylet'al P, et al : Alterations of uromodulin biology : a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int 70 : 1155-1169, 2006.
 
8) Trudu M, et al : Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression. Nat Med 19 : 1655-1660, 2013.
 
9) Kidd K, et al : Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations. Kidney Int Rep 5 : 1472-1485, 2020.
PubMed
10) Zivna M, et al : Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 85 : 204-213, 2009.
PubMed
11) Zivna M, et al : An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int 98 : 1589-1604, 2020.
PubMed
12) Bockenhauer D, Jaureguiberry G : HNF1B-associated clinical phenotypes : the kidney and beyond. Pediatr Nephrol 31 : 707-714, 2016.
PubMed
13) Heidet L, et al : Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 5 : 1079-1090, 2010.
 
14) Okorn C, et al : HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases : results of the German Multicenter HNF1B Childhood Registry. Pediatr Nephrol 34 : 1065-1075, 2019.
 
15) Bleyer AJ, et al : Autosomal dominant tubulointerstitial kidney disease : more than just HNF1β. Pediatr Nephrol 37 : 933-946, 2022.
 
P.308 掲載の参考文献
1) Meyers ML, et al : Imaging of fetal cystic kidney disease : multicystic dysplastic kidney versus renal cystic dysplasia. Pediatr Radiol 50 : 1921-1933, 2020.
PubMed
2) Schreuder MF, et al : Unilateral multicystic dysplastic kidney : a meta-analysis of observational studies on the incidence, associated urinary tract malformations and the contralateral kidney. Nephrol Dial Transplant 24 : 1810-1818, 2009.
PubMed
3) Hiraoka M, et al : Renal aplasia is the predominant cause of congenital solitary kidneys. Kidney Int 61 : 1840-1844, 2002.
PubMed
4) Kara A, et al : Clinical features of children with multicystic dysplastic kidney. Pediatr Int 60 : 750-754, 2018.
PubMed
5) Feldenberg LR, Siegel NJ : Clinical course and outcome for children with multicystic dysplastic kidneys. Pediatr Nephrol 14 : 1098-1101, 2000.
PubMed
6) Cardona-Grau D, Kogan BA : Update on Multicystic Dysplastic Kidney. Curr Urol Rep 16 : 67, 2015.
PubMed
7) Hains DS, et al : Management and etiology of the unilateral multicystic dysplastic kidney : a review. Pediatr Nephrol 24 : 233-241, 2009.
PubMed
8) de Bruyn R, Marks SD : Postnatal investigation of fetal renal disease. Semin Fetal Neonatal Med 13 : 133-141, 2008.
PubMed
9) Raina R, et al : Diagnosis and Management of Renal Cystic Disease of the Newborn : Core Curriculum 2021. Am J Kidney Dis 78 : 125-141, 2021.
PubMed
10) Erlich T, et al : A meta-analysis of the incidence and fate of contralateral vesicoureteral reflux in unilateral multicystic dysplastic kidney. J Pediatr Urol 15 : 77.e1-77.e7, 2019.
 
11) Eickmeyer AB, et al : The natural history of the multicystic dysplastic kidney-is limited follow-up warranted? J Pediatr Urol 10 : 655-661, 2014.
PubMed
12) Pettit S, Chalmers D : Neonatal multicystic dysplastic kidney with mass effect : A systematic review. J Pediatr Urol 17 : 763-768, 2021.
PubMed
13) Mansoor O, et al : Long-term risk of chronic kidney disease in unilateral multicystic dysplastic kidney. Pediatr Nephrol 26 : 597-603, 2011.
PubMed
14) Chang A, et al : Evidence-based treatment of multicystic dysplastic kidney : a systematic review. J Pediatr Urol 14 : 510-519, 2018.
PubMed
15) Matsell DG, et al : Outcomes of solitary functioning kidneys-renal agenesis is different than multicystic dysplastic kidney disease. Pediatr Nephrol 36 : 3673-3680, 2021.
PubMed

VIII 腫瘍性腎疾患

P.315 掲載の参考文献
1) WHO Classification of Tumours of the Urinary System and Male Genital Organs, 4th ed (ed by Moch H, et al), IARC Press, Lyon, 2016.
 
2) 泌尿器科・病理・放射線科腎癌取扱い規約 [第5版] (日本泌尿器科学会, ほか編), メディカルレビュー社, 2021.
 
2) Ishikawa I : Present status of renal cell carcinoma in dialysis patients in Japan : questionnaire study in 2002. Nephron Clin Pract 97 : c11-16, 2004.
PubMed
3) Inamura K, et al : Renal Cell Tumors : Understanding Their Molecular Pathological Epidemiology and the 2016 WHO Classification. Int J Mol Sci 18 : 2195, 2017.
 
3) Dunnill MS, et al : Acquired cystic disease of the kidneys : a hazard of long-term intermittent maintenance haemodialysis. J Clin Pathol 30 : 868-877, 1977.
PubMed
4) Patard JJ, et al : Prognostic value of histologic subtypes in renal cell carcinoma : a multicenter experience. J Clin Oncol 23 : 2763-2771, 2005.
PubMed
4) 腎癌取扱い規約 [第5版] (日本泌尿器科学会, ほか編), メディカルレビュー社, 2021.
 
5) Skala SL, et al : Next-generation RNA Sequencing-based Biomarker Characterization of Chromophobe Renal Cell Carcinoma and Related Oncocytic Neoplasms. Eur Urol 78 : 63-74, 2020.
PubMed
5) Tickoo SK, et al : Spectrum of epithelial neoplasms in end-stage renal disease : an experience from 66 tumor-bearing kidneys with emphasis on histologic patterns distinct from those in sporadic adult renal neoplasia. Am J Surg Pathol 30 : 141-153, 2006.
PubMed
6) Casuscelli J, et al : Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma. JCI Insight 2 : e92688, 2017.
 
6) Kondo T, et al : Acquired cystic disease-associated renal cell carcinoma is the most common subtype in long-term dialyzed patients : Central pathology results according to the 2016 WHO classification in a multi-institutional study. Pathol Int 68 : 543-549, 2018.
 
7) Gupta N, et al : Birt-Hogg-Dube Syndrome. Clin Chest Med 37 : 475-486, 2016.
PubMed
7) Levine E : Acquired cystic kidney disease. Radiol Clin North Am 34 : 947-964, 1996.
PubMed
8) Grantham JJ : Acquired cystic kidney disease. Kidney Int 40 : 143-152, 1991.
PubMed
8) 高山哲治, ほか : 小児・成人のためのCowden症候群/PTEN過誤腫症候群診療ガイドライン (2020年版) (日本遺伝性腫瘍学会編). 遺伝性腫瘍 20 : 93-114, 2020.
 
9) Moch H, et al : Chromophobe renal cell carcinoma : current and controversial issues. Pathology 53 : 101-108, 2021.
PubMed
9) Ito F, et al : Mutagen accumulated in cyst fluid of acquired cystic disease of the kidney. Nephron 86 : 192-194, 2000.
PubMed
10) Karashima T, et al : Oncocytic variant, a novel subtype of chromophobe renal cell carcinoma : a report of two cases and a literature review. Int Cancer Conf J 10 : 100-106, 2021.
 
10) Ishihara H, et al : Genetic and epigenetic profiling indicates the proximal tubule origin of renal cancers in end-stage renal disease. Cancer Sci 111 : 4276-4287, 2020.
PubMed
11) Kuroda N, et al : Acquired cystic disease-associated renal cell carcinoma : a clinicopathological study of seven cases. Pol J Pathol 68 : 306-311, 2017.
PubMed
11) 腎癌診療ガイドライン 2017年版 (日本泌尿器科学会編), メディカルレビュー社, 2017.
 
12) Kondo T, et al : Comparable survival outcome between acquired cystic disease associated renal cell carcinoma and clear cell carcinoma in patients with end-stage renal disease : a multi-institutional central pathology study. Pathology 53 : 720-727, 2021.
PubMed
12) Martinez Chanza N, et al : Cabozantinib in advanced non-clear-cell renal cell carcinoma : a multicentre, retrospective, cohort study. Lancet Oncol 20 : 581-590, 2019.
PubMed
13) Ferda J, et al : Computed tomography of renal cell carcinoma in patients with terminal renal impairment. Eur J Radiol 63 : 295-301, 2007.
PubMed
14) Ikezawa E, et al : Clinical symptoms predict poor overall survival in chronic-dialysis patients with renal cell carcinoma associated with end-stage renal disease. Jpn J Clin Oncol 44 : 1096-1100, 2014.
PubMed
15) Omae K, et al : Efficacy and safety of sorafenib for treatment of Japanese metastatic renal cell carcinoma patients undergoing hemodialysis. Int J Clin Oncol 21 : 126-132, 2016.
PubMed
P.320 掲載の参考文献
1) Liang JA, et al : The association between malignancy and end-stage renal disease in Taiwan. Jpn J Clin Oncol 41 : 752-757, 2011.
PubMed
P.323 掲載の参考文献
1) 大賀正一, ほか : 腎明細胞肉腫. 小児がん, 小児血液・腫瘍学 [改訂第2版] (日本小児血液・がん学会編), p559-562, 診断と治療社, 2022.
 
2) Oue T, et al : Factors responsible for stage III disease in patients with Wilms tumor enrolled in the JWiTS-2 study. Pediatr Surg Int 35 : 1095-1099, 2019.
PubMed
3) Kao YC, et al : Recurrent BCOR Internal Tandem Duplication and YWHAE-NUTM2B Fusions in Soft Tissue Undifferentiated Round Cell Sarcoma of Infancy : Overlapping Genetic Features With Clear Cell Sarcoma of Kidney. Am J Surg Pathol 40 : 1009-1020, 2016.
PubMed
4) Ueno-Yokohata H, et al : Consistent in-frame internal tandem duplications of BCOR characterize clear cell sarcoma of the kidney. Nat Genet 47 : 861-863, 2015.
PubMed
5) Astolfi A, et al : BCOR involvement in cancer. Epigenomics 11 : 835-855, 2019.
PubMed
6) Han H, et al : BCOR-CCNB3 fusion-positive clear cell sarcoma of the kidney. Pediatr Blood Cancer 67 : e28151, 2020.
PubMed
7) Argani P, et al : Clear cell sarcoma of the kidney : a review of 351 cases from the National Wilms Tumor Study Group Pathology Center. Am J Surg Pathol 24 : 4-18, 2000.
 
8) Furtwangler R, et al : Clear cell sarcomas of the kidney registered on International Society of Pediatric Oncology (SIOP) 93-01 and SIOP 2001 protocols : a report of the SIOP Renal Tumour Study Group. Eur J Cancer 49 : 3497-3506, 2013.
 
9) 小児腎腫瘍. 小児がん診療ガイドライン 2016年版 (日本小児血液・がん学会編), p72-73, 金原出版, 2016.
 
10) Seibel NL, et al : Impact of cyclophosphamide and etoposide on outcome of clear cell sarcoma of the kidney treated on the National Wilms Tumor Study-5 (NWTS-5). Pediatr Blood Cancer 66 : e27450, 2019.
PubMed
P.327 掲載の参考文献
1) Morra MN, Das S : Renal oncocytoma : a review of histogenesis, histopathology, diagnosis and treatment. J Urol 150 : 295-302, 1993.
PubMed
2) Kondo H, et al : A Case of Renal Oncocytoma with Renal Venous Tumor Thrombus. Keio J Med 68 : 39-41, 2019.
PubMed
3) Zhao W, et al : DOG1, cyclin D1, CK7, CD117 and vimentin are useful immunohistochemical markers in distinguishing chromophobe renal cell carcinoma from clear cell renal cell carcinoma and renal oncocytoma. Pathol Res Pract 211 : 303-307, 2015.
PubMed
P.330 掲載の参考文献
1) Stiller CA, Parkin DM : International variations in the incidence of childhood renal tumours. Br J Cancer 62 : 1026-1030, 1990.
PubMed
2) Nakata K, et al : Incidence of childhood renal tumours : An international population-based study. Int J Cancer 147 : 3313-3327, 2020.
PubMed
3) Fukuzawa R, et al : Epigenetic differences between Wilms' tumours in white and east-Asian children. Lancet 363 : 446-451, 2004.
 
4) Oue T, et al : Anaplastic histology Wilms' tumors registered to the Japan Wilms' Tumor Study Group are less aggressive than that in the National Wilms' Tumor Study 5. Pediatr Surg Int 32 : 851-855, 2016.
 
5) Loke BN, et al : Clinical, pathological and loss of heterozygosity differences in Wilms tumors between Asian and non-Asian children. Int J Cancer 144 : 1234-1242, 2019.
PubMed
6) 金子安比古 : Wilms腫瘍 (腎芽腫) の発生に関わるジェネティック・エピジェネティック異常, および遺伝性・両側性Wilms腫瘍の原因遺伝子. 日本小児血液・がん学会雑誌 51 : 423-431, 2014.
Medical*Online
7) Mahamdallie S, et al : Identification of new Wilms tumour predisposition genes : an exome sequencing study. Lancet Child Adolesc Health 3 : 322-331, 2019.
PubMed
8) Haruta M, et al : Different incidences of epigenetic but not genetic abnormalities between Wilms tumors in Japanese and Caucasian children. Cancer Sci 103 : 1129-1135, 2012.
 
9) 菅原典子, ほか : 腎芽腫により高血圧緊急症を呈した乳児の1例. 日本小児腎不全学会雑誌 40 : 151-154, 2020.
 
10) D'Angio GJ : The National Wilms Tumor Study : a 40 year perspective. Lifetime Data Anal 13 : 463-470, 2007.
 
11) Godzinski J : The current status of treatment of Wilms' tumor as per the SIOP trials. J Indian Assoc Pediatr Surg 20 : 16-20, 2015.
PubMed
12) Oue T, et al : Outcome of pediatric renal tumor treated using the Japan Wilms Tumor Study-1 (JWiTS-1) protocol : a report from the JWiTS group. Pediatr Surg Int 25 : 923-929, 2009.
PubMed
13) Koshinaga T, et al : Outcome of renal tumors registered in Japan Wilms Tumor Study-2 (JWiTS-2) : A report from the Japan Children's Cancer Group (JCCG). Pediatr Blood Cancer 65 : e27056, 2018.
 
14) Oue T, et al : Bilateral Wilms tumors treated according to the Japan Wilms Tumor Study Group protocol. Pediatr Blood Cancer 61 : 1184-1189, 2014.
 
P.334 掲載の参考文献
1) 桜井康雄, 齋藤博爺 : 腎偽性腫瘍. 別冊日本臨牀腎臓症候群 (上巻), p478-480, 日本臨牀社, 1996.
 
2) 角野佳史, ほか : 腎炎症性偽腫瘍の1例. 臨床泌尿器科 57 : 517-519, 2003.
 
3) Feldman AE, et al : Renal pseudotumors : An anatomic-radiologic classiffication. J Urol 120 : 133-139, 1978.
 
4) 木村理子, ほか : 腎偽腫瘍を呈した末期腎不全患者の2例. 腎と透析 45 : 253-255, 1998.
 
5) 清野耕治, ほか : Bertin腎柱による腎偽腫瘍の1例. 臨床泌尿器科 47 : 255-257, 1993.
 
6) Davides KC, et al : Plasma cell granuloma of the renal pelvis. J Urol 107 : 938-939, 1972.
PubMed
7) Bell ND, et al : Renal inflammatory pseudotumor. South Med J 91 : 1050-1053, 1998.
PubMed
8) 岩城秀出洙, ほか : 腎炎症性偽腫瘍の1例. 日本泌尿器科学会雑誌 92 : 589-592, 2001.
 
9) Shoji S, et al : IgG4-related inflammatory pseudotumor of the kidney. Int J Urol 17 : 389-390, 2010.
PubMed
10) Weiss MA, Mills SE : Inflammatory pseudotumors. In : Genitourinary Tract Pathology, p9-12, Gower Medical Publishing, London, 1993.
 
11) Malek RS, et al : Xanthogranulomatous pyelonephritis. Br J Urol 44 : 296-308, 1972.
PubMed
12) 堀野哲也, 小野寺昭一 : 気腫性腎盂腎炎, 黄色肉芽腫性腎盂腎炎. 泌尿器外科 21 : 447-451, 2008.
Medical*Online
P.338 掲載の参考文献
1) Flum AS, et al : Update on the Diagnosis and Management of Renal Angiomyolipoma. J Urol 195 : 834-846, 2016.
PubMed
2) Fujii Y, et al : Benign renal tumors detected among healthy adults by abdominal ultrasonography. Eur Urol 27 : 124-127, 1995.
PubMed
3) Schwartz RA, et al : Tuberous sclerosis complex : advances in diagnosis, genetics, and management. J Am Acad Dermatol 57 : 189-202, 2007.
PubMed
4) European Chromosome 16 Tuberous Sclerosis Consortium : Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75 : 1305-1315, 1993.
PubMed
5) van Slegtenhorst M, et al : Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277 : 805-808, 1997.
PubMed
6) Koh JL, et al : Simultaneous cesarean section and radical nephrectomy for angiomyolipoma with spontaneous bleeding during pregnancy : a case report. J Reprod Med 52 : 338-340, 2007.
PubMed
7) Raft J, et al : Renal angiomyolipoma rupture during pregnancy. Gynecol Obstet Fertil 34 : 917-919, 2006.
PubMed
8) Paivansalo M, et al : Renal angiomyolipoma. Ultrasonographic, CT, angiographic, and histologic correlation. Acta Radiol 32 : 239-243, 1991.
PubMed
9) Jinzaki M, et al : Renal angiomyolipoma : a radiological classification and update on recent developments in diagnosis and management. Abdom Imaging 39 : 588-604, 2014.
PubMed
10) Siegel CL, et al : Angiomyolipoma and renal cell carcinoma : US differentiation. Radiology 198 : 789-793, 1996.
PubMed
11) Silverman SG, et al : Management of the incidental renal mass. Radiology 249 : 16-31, 2008.
PubMed
12) Krueger DA, Northrup H, International Tuberous Sclerosis Complex Consensus Group : Tuberous sclerosis complex surveillance and management : recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49 : 255-265, 2013.
 
13) Hatano T, Egawa S : Renal angiomyolipoma with tuberous sclerosis complex : How it differs from sporadic angiomyolipoma in both management and care. Asian J Surg 43 : 967-972, 2020.
PubMed
14) Bissler JJ, et al : Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2) : a multicentre, randomised, double-blind, placebo-controlled trial. Lancet 381 : 817-824, 2013.
 
15) Hatano T, et al : Outcomes of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex : A single institution experience in Japan. Int J Urol 23 : 833-838, 2016.
PubMed
16) Hatano T, et al : Effect of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex : An evaluation based on tumor density. Int J Clin Oncol 23 : 547-552, 2018.
PubMed
P.347 掲載の参考文献
1) Sung H, et al : Global Cancer Statistics 2020 : GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clin 71 : 209-249, 2021.
 
2) Latif F, et al : Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260 : 1317-1320, 1993.
PubMed
3) Kutikov A, Uzzo RG : The R.E.N.A.L. nephrometry score : a comprehensive standardized system for quantitating renal tumor size, location and depth. J Urol 182 : 844-853, 2009.
 
4) Mejean A, et al : Sunitinib Alone or after Nephrectomy in Metastatic Renal-Cell Carcinoma. N Engl J Med 379 : 417-427, 2018.
 
5) Bex A, et al : Comparison of Immediate vs Deferred Cytoreductive Nephrectomy in Patients With Synchronous Metastatic Renal Cell Carcinoma Receiving Sunitinib : The SURTIME Randomized Clinical Trial. JAMA Oncol 5 : 164-170, 2019.
PubMed
6) Motzer RJ, et al : Nivolumab versus Everolimus in Advanced Renal-Cell Carcinoma. N Engl J Med 373 : 1803-1813, 2015.
PubMed
7) Motzer RJ, et al : Nivolumab plus Ipilimumab versus Sunitinib in Advanced Renal-Cell Carcinoma. N Engl J Med 378 : 1277-1290, 2018.
PubMed
8) Motzer RJ, et al : Avelumab plus Axitinib versus Sunitinib for Advanced Renal-Cell Carcinoma. N Engl J Med 380 : 1103-1115, 2019.
PubMed
9) Rini BI, et al : Pembrolizumab plus Axitinib versus Sunitinib for Advanced Renal-Cell Carcinoma. N Engl J Med 380 : 1116-1127, 2019.
PubMed
10) Choueiri TK, et al : Nivolumab plus Cabozantinib versus Sunitinib for Advanced Renal-Cell Carcinoma. N Engl J Med 384 : 829-841, 2021.
PubMed
11) Motzer R, et al : Lenvatinib plus Pembrolizumab or Everolimus for Advanced Renal Cell Carcinoma. N Engl J Med 384 : 1289-1300, 2021.
 
12) Choueiri TK, et al : Cabozantinib versus everolimus in advanced renal cell carcinoma (METEOR) : final results from a randomised, open-label, phase 3 trial. Lancet Oncol 17 : 917-927, 2016.
PubMed
13) Choueiri TK, et al : Cabozantinib versus Everolimus in Advanced Renal-Cell Carcinoma. N Engl J Med 373 : 1814-1823, 2015.
PubMed
14) Rini BI, et al : The society for immunotherapy of cancer consensus statement on immunotherapy for the treatment of advanced renal cell carcinoma (RCC). J Immunother Cancer 7 : 354, 2019.
 
15) Heng DY, et al : Prognostic factors for overall survival in patients with metastatic renal cell carcinoma treated with vascular endothelial growth factor-targeted agents : results from a large, multicenter study. J Clin Oncol 27 : 5794-5799, 2009.
PubMed
P.351 掲載の参考文献
1) Porter GA, et al : Retroperitoneal sarcoma : a population-based analysis of epidemiology, surgery, and radiotherapy. Cancer 106 : 1610-1616, 2006.
PubMed
2) 軟部腫瘍診療ガイドライン 2020 [改訂第3版] (日本整形外科学会監, 日本整形外科学会診療ガイドライン委員会/軟部腫瘍診療ガイドライン策定委員会編), 南江堂, 2020.
 
3) Singer S, et al : Histologic subtype and margin of resection predict pattern of recurrence and survival for retroperitoneal liposarcoma. Ann Surg 238 : 358-370 ; discussion 370-371, 2003.
 
4) Messiou C, et al : Primary retroperitoneal soft tissue sarcoma : Imaging appearances, pitfalls and diagnostic algorithm. Eur J Surg Oncol 43 : 1191-1198, 2017.
PubMed
5) Lahat G, et al : Computed tomography scan-driven selection of treatment for retroperitoneal liposarcoma histologic subtypes. Cancer 115 : 1081-1090, 2009.
PubMed
6) Song T, et al : Retroperitoneal liposarcoma : MR characteristics and pathological correlative analysis. Abdom Imaging 32 : 668-674, 2007.
PubMed
7) Vos M, et al : Differences in recurrence and survival of extremity liposarcoma subtypes. Eur J Surg Oncol 44 : 1391-1397, 2018.
PubMed
8) Lin F, et al : Survival and risk factors in patients with liposarcoma with distant metastasis. Am J Transl Res 12 : 2071-2082, 2020.
PubMed
9) 大門達明, ほか : 腎周囲を原発とした混合型脂肪肉腫. 臨床泌尿器科 64 : 665-668, 2010.
 
10) Chiang IC, et al : Huge renal lipoma with prominent hypervascular non-adipose elements. Br J Radiol 79 : e148-151, 2006.
PubMed
11) Sakata Y, et al : Coexistence of renal replacement lipomatosis with xanthogranulomatous pyelonephritis. Int J Urol 11 : 44-46, 2004.
PubMed
12) Kiris A, et al : Xanthogranulomatous pyelonephritis with nephrocutanous fistula and coexisting renal replacement lipomatosis : the report of a rare case. Clin Imaging 29 : 356-358, 2005.
PubMed
13) 白井尚, ほか : 腎脂肪性置換の2例. 泌尿器科紀要 40 : 605-608, 1994.
 
P.355 掲載の参考文献
1) Lerman RJ, et al : Renomedullary interstitial cell tumor (formerly fibroma of renal medulla). Hum Pathol 3 : 559-568, 1972.
PubMed
2) Calio A, et al : Renomedullary Interstitial Cell Tumors : Pathologic Features and Clinical Correlations. Am J Surg Pathol 40 : 1693-1701, 2016.
PubMed
3) Zhuo JL : Renomedullary interstitial cells : A target for endocrine and paracrine actions of vasoactive peptides in the renal medulla. Clim Exp Pharmacol Physiol 27 : 465-473, 2000.
 
4) Stuart R, et al : Renomedullary interstitial cell lesions and hypertension. Hum Pathol 7 : 327-332, 1976.
PubMed
5) Martin MR, et al : Incidence of renomedullary interstitial cell tumours and correlation with hypertension. S Afr Med J 50 : 2099-2100, 1976.
PubMed
6) 敦川浩之, ほか : 腎髄質間質細胞腫の1例. 日本泌尿器科学会雑誌 91 : 37-40, 2000.
 
7) Zimmermann A, et al : Amyloid-containing renal interstitial cell nodules (RICNs) associated with chronic arterial hypertension in older age groups. Am J Pathol 105 : 288-294, 1981.
PubMed
8) Glover SD, et al : Renal medullary fibroma : a case report. J Urol 127 : 758-760, 1982.
PubMed
9) Prasad SR, et al : Benign renal neoplasms in adults : cross-sectional imaging findng. AJR Am J Roenthenol 190 : 158-164, 2008.
 
10) Lu Z, et al : Immunohistochemical characteristics of renomedullary interstitial cell tumor : a study of 41 tumors with emphasis on differential diagnosis of mesenchymal neoplasms. Hum Pathol 82 : 46-50, 2018.
PubMed
P.359 掲載の参考文献
1) Moch H, et al : The 2016 WHO Classification of Tumours of the Urinary System and Male Genital Organs-Part A : Renal, Penile, and Testicular Tumours. Eur Urol 70 : 93-105, 2016.
 
2) Mostofi FK, et al : Benign tumors of the kidney. Prog Clin Biol Res 269 : 329-346, 1988.
PubMed
3) Wang KL, et al : Renal papillary adenoma-a putative precursor of papillary renal cell carcinoma. Hum Pathol 38 : 239-246, 2007.
 
4) Billis A, et al : Genitourinary Malignancies in Transplant or Dialysis Patients : The Frequency of Two Newly Described 2016 World Health Organization Histopathologic Types. Transplant Proc 49 : 1783-1785, 2017.
PubMed
5) Calio A, et al : Papillary Adenomas and Other Small Epithelial Tumors in the Kidney : An Autopsy Study. Am J Surg Pathol 43 : 277-287, 2019.
PubMed
6) Raman SP, et al : Beyond renal cell carcinoma : rare and unusual renal masses. Abdom Imaging 37 : 873-884, 2012.
PubMed
7) Davis CJ, et al : Metanephric adenoma. Clinicopathological study of fifty patients. Am J Surg Pathol 19 : 1101-1114, 1995.
 
8) Kurose H, et al : Metanephric adenoma diagnosed preoperatively as renal cell carcinoma : a report of two cases. Nihon Hinyokika Gakkai Zasshi 107 : 251-255, 2016.
PubMed
9) Hughson MD, et al : Renal neoplasia and acquired cystic kidney disease in patients receiving long-term dialysis. Arch Pathol Lab Med 110 : 592-601, 1986.
PubMed
10) Sarlos DP, et al : Embryonal Origin of Metanephric Adenoma and its Differential Diagnosis. Anticancer Res 38 : 6663-6667, 2018.
PubMed
11) Syrjanen KJ : Renal adenomatosis. Report of an autopsy case. Scand J Urol Nephrol 13 : 329-334, 1979.
PubMed
12) Brunelli M, et al : Gains of chromosomes 7, 17, 12, 16, and 20 and loss of Y occur early in the evolution of papillary renal cell neoplasia : a fluorescent in situ hybridization study. Mod Pathol 16 : 1053-1059, 2003.
PubMed
13) Chang HY, et al : Clinicopathological and molecular characterisation of papillary renal neoplasm with reverse polarity and its renal papillary adenoma analogue. Histopathology 78 : 1019-1031, 2021.
PubMed
14) Baniak N, et al : Key Renal Neoplasms With a Female Predominance. Adv Anat Pathol 28 : 228-250, 2021.
PubMed
15) Hwang SS, Choi YJ : Metanephric adenoma of the kidney : case report. Abdom Imaging 29 : 309-311, 2004.
PubMed
P.364 掲載の参考文献
1) 奥野菜津子, ほか : 腎平滑筋肉腫の1例. 臨床放射線 63 : 471-474, 2018.
 
2) Ding Y, Quan C : Primary Renal Leiomyosarcoma. J Coll Physicians Surg Pak 30 : 725-727, 2021.
PubMed
3) Djiwa T, et al : Renal Leiomyosarcoma, a Rare Presentation. J Kidney Cancer VHL 9 : 51-54, 2022.
PubMed
4) 南雲義之, ほか : Gemcitabine・Docetaxel併用療法にて長期生存が得られた腎平滑筋肉腫の1例. 泌尿器科紀要 59 : 497-501, 2013.
 
5) 新川平馬, ほか : ロボット支援腎部分切除術を施行した腎平滑筋腫の1例. 西日本泌尿器科 82 : 444-448, 2020.
Medical*Online
6) 近藤翔太, ほか : 腎平滑筋腫. 画像診断 40 : 270-271, 2020.
 
7) 西山隆一, ほか : 腹腔鏡下腎部分切除術を行った腎平滑筋腫の1例. 泌尿器科紀要 58 : 197-201, 2012.
 
8) 三上芳喜 : 腎臓原発平滑筋腫の1例. 病理と臨床 25 : 392-393, 2007.
 
P.368 掲載の参考文献
1) 標準泌尿器科学 [改訂第10版] (市川智彦, 久米春喜編, 並木幹夫監), 医学書院, 2021.
 
2) 松本一宏, 早川望 : 泌尿器科診療ベストNAVI疾患・病態の診療腫瘍腎盂尿管腫瘍腎盂尿管腫瘍 (悪性腫瘍). 臨床泌尿器科 67 : 261-262, 2013.
 
3) 腎盂・尿管癌診療ガイドライン 2014年版 (日本泌尿器科学会編), メディカルレビュー社, 2014.
 
4) 国立がん研究センターがん情報サービス : 腎盂・尿管がん. [https://ganjoho.jp/public/cancer/renal_pelvis/pdf/renal_pelvis.pdf]
 
5) 松本一宏, 大家基嗣 : 腎盂尿管癌研究の歴史的変遷と展望. 日本臨牀 75 (増刊 : 新腎・泌尿器癌 (上)) : 431-436, 2017.
 
6) 腎盂・尿管・膀胱癌取扱い規約 [第2版] (日本泌尿器科学会・日本病理学会・日本医学放射線学会・日本臨床腫瘍学会編), 医学図書出版, 2021.
 
7) Messer J, et al : Urinary cytology has a poor performance for predicting invasive or high-grade upper-tract urothelial carcinoma. BJU Int 108 : 701-705, 2011.
PubMed
8) Kondo T, et al : Impact of the extent of regional lymphadenectomy on the survival of patients with urothelial carcinoma of the upper urinary tract. J Urol 178 : 1212-1217 ; discussion 1217, 2007.
 
P.372 掲載の参考文献
1) Koshinaga T, et al : Outcome of renal tumors registered in Japan Wilms Tumor Study-2 (JWiTS-2) : A report from the Japan Children's Cancer Group (JCCG). Pediatr Blood Cancer 65 : e27056, 2018.
 
2) Isaacs H Jr : Fetal and neonatal renal tumors. J Pediatr Surg 43 : 1587-1595, 2008.
PubMed
3) Gooskens SL, et al : Congenital mesoblastic nephroma 50 years after its recognition : A narrative review. Pediatr Blood Cancer 64 : e26437, 2017.
 
4) Daskas N, et al : Congenital mesoblastic nephroma associated with polyhydramnios and hypercalcemia. Pediatr Nephrol 17 : 187-189, 2002.
PubMed
5) Furtwaengler R, et al : Mesoblastic nephroma-a report from the Gesellschaft fur Padiatrische Onkologie und Hamatologie (GPOH). Cancer 106 : 2275-2283, 2006.
PubMed
6) Haddad B, et al : The congenital mesoblastic nephroma : a case report of prenatal diagnosis. Fetal Diagn Ther 11 : 61-66, 1996.
PubMed
7) Takahashi H, et al : Congenital mesoblastic nephroma : Its diverse clinical features-A literature review with a case report. J Obstet Gynaecol 36 : 340-344, 2016.
PubMed
8) Takahashi H, et al : Maternal manifestation of Ballantyne's syndrome occurring concomitantly with the development of fetal congenital mesoblastic nephroma. J Obstet Gynaecol Res 40 : 1114-1117, 2014.
 
9) 加藤紘隆, ほか : 胎児期に急速に増大し出生早期にoncologic emergencyを呈した先天性間葉芽腎腫の1例. 日本小児外科学会雑誌 56 : 319-323, 2020.
Medical*Online
10) Linam LE, et al : Contribution of magnetic resonance imaging to prenatal differential diagnosis of renal tumors : report of two cases and review of the literature. Fetal Diagn Ther 28 : 100-108, 2010.
PubMed
11) Chen Y, et al : Specific computed tomography imaging characteristics of congenital mesoblastic nephroma and correlation with ultrasound and pathology. J Pediatr Urol 14 : 571.e1-571.e6, 2018.
 
12) 湊宏 : 知っていると役立つ泌尿器科病理 32. 症例 : 0歳・女児. 臨床泌尿器 68 : 897-900, 2014.
 
13) Do AY, et al : Prenatal diagnosis of congenital mesoblastic nephroma. Obstet Gynecol Sci 58 : 405-408, 2015.
PubMed
P.376 掲載の参考文献
1) 廣野晴彦, ほか : 多房性腎嚢胞. 泌尿器科紀要 20 : 823-828, 1974.
 
2) 藤本雅哉, ほか : 腎盂内発育を示した多房性腎嚢胞の1例. 泌尿器外科 12 : 49-52, 1999.
Medical*Online
3) Hopkins JK, et al : Best cases from the AFIP : cystic nephroma. Radiographics 24 : 589-593, 2004.
PubMed
4) World Health Organization Classification of Tumours : Pathology and Genetics of Tumours of the Urinary System and Male Genital Organs (ed by Eble JN, et al), p55, IARC Press, Lyon, 2004.
 
5) World Health Organization Classification of Tumours of the Urinary System and Male Genital Organs (ed by Moch H, et al), p70-71, IARC Press, Lyon, 2016.
 
6) Li Y, et al : Pediatric Cystic Nephroma Is Morphologically, Immunohistochemically, and Genetically Distinct From Adult Cystic Nephroma. Am J Surg Pathol 41 : 472-481, 2017.
PubMed
7) Castillo OA, et al : Multilocular cysts of kidney. A study of 29 patients and review of literature. Urology 37 : 156-162, 1991.
 
8) Silverman SG, et al : Bosniak classification of cystic renal masses, version 2019 : An update proposal and needs assessment. Radiology 292 : 475-488, 2019.
PubMed
9) 菊地健太, ほか : DICER1遺伝子変異を伴った胸膜肺芽腫およびCystic Nephromaの一例. 日本小児外科学会雑誌 57 : 511, 2021.
Medical*Online
P.379 掲載の参考文献
1) Wright TC, et al : Carcinoma and other tumor of the cervix. In : Blaustein's Pathology of the Female Genital tract (ed by Kurman RJ), p279-326, Springer-Verlag, New York, 1995.
 
2) Ferry JA, Scully RE : Mesonephric remnants, hyperplasia, and neoplasia in the uterine cervix. A study of 49 cases. Am J Surg Pathol 14 : 1100-1111, 1990.
PubMed
2) Elouazzani H, et al : Juxtaglomerular cell tumor : a distinct mesenchymal tumor of kidney. J Clin Imaging Sci 4 : 33, 2014.
PubMed
3) Clement PB, et al : Malignant mesonephric neoplasms of the uterine cervix. A report of eight cases, including four with a malignant spindle cell component. Am J Surg Pathol 19 : 1158-1171, 1995.
 
3) Ueda T, et al : Juxtaglomerular cell tumor diagnosed preoperatively by renal tumor biopsy. IJU Case Rep 4 : 207-209, 2021.
PubMed
4) 辻本正彦 : 子宮頸部腫陽. 診療のための婦人科腫瘍の臨床病理 (滝一郎, ほか編), p94-131, メジカルビュー社, 1992.
 
4) Kuroda N, et al : Review of juxtaglomerular cell tumor with focus on pathobiological aspect. Diagn Pathol 6 : 80, 2011.
PubMed
5) Ohashi Y, et al : Focal Segmental Glomerulosclerosis Secondary to Juxtaglomerular Cell Tumor during Pregnancy : A Case Report. Case Rep Nephrol Urol 4 : 88-94, 2014.
PubMed
5) Nucci MR : Symposium part III : tumor-like glandular lesions of the uterine cervix. Int J Gynecol Pathol 21 : 347-359, 2002.
PubMed
6) Samaratunga H, et al : Squamous cell carcinoma in situ involving mesonephric remnants. A potential diagnostic pitfall. Am J Surg Pathol 18 : 1265-1269, 1994.
PubMed
6) Brandal P, et al : Chromosome abnormalities in juxtaglomerular cell tumors. Cancer 104 : 504-510, 2005.
PubMed
7) Inam R, et al : Juxtaglomerular Cell Tumor : Reviewing a Cryptic Cause of Surgically Correctable Hypertension. Curr Urol 13 : 7-12, 2019.
PubMed
7) Zhang L, et al : Mesonephric Adenocarcinoma of the Uterine Corpus : Report of 2 Cases and Review of the Literature. Int I Gynecol Pathol 38 : 224-229, 2019.
PubMed
8) Dong D, et al : Juxtaglomerular cell tumor of the kidney-a new classification scheme. Urol Oncol 28 : 34-38, 2010.
PubMed
8) Ando H, et al : Mesonephric adenocarcinoma of the uterine corpus with intracystic growth completely confined to the myometrium : a case report and literature review. Diagn Pathol 12 : 63, 2017.
 
9) Rosai J : Urinary tract, Female reproductive system. In : Rosai and Ackerman's Surgical Pathology, 9th ed (ed by Rosai J), p1163-1657, CV Mosby, Toronto, 2004.
 
9) Gottardo F, et al : A kidney tumor in an adolescent with severe hypertension and hypokalemia : an uncommon case-case report and review of the literature on reninoma. Urol Int 85 : 121-124, 2010.
 
10) Zaino RJ, et al : Disease of vagina. In Blaustein's Pathology of the Female Genital Tract (ed by Kurman RJ), p131-184, Springer-Verlag, New York, 1995.
 
10) Tanabe A, et al : Dynamic computer tomography is useful in the differential diagnosis of juxtaglomerular cell tumor and renal cell carcinoma. Hypertens Res 24 : 331-336, 2001.
PubMed
11) Mueller I, et al : Mesonephric adenocarcinoma of the vagina : Diagnosis and multimodal treatment of a rare tumor and analysis of worldwide experience. Strahlenther Onkol 192 : 668-671, 2016.
PubMed
11) Lee HJ, et al : Paraneoplastic secondary hypertension due to a renin-secreting desmoplastic small round cell tumor : A case report. Oncol Lett 8 : 1986-1992, 2014.
PubMed
12) Lachvac L, et al : Juxtaglomerular cell tumor, causing fetal demise. Int Urol Nephrol 43 : 365-370, 2011.
PubMed
12) Yap OW, et al : Mesonephric adenocarcinoma of the cervix : a case report and review of the literature. Gynecol Oncol 103 : 1155-1158, 2006.
PubMed
13) Dierickx A, et al : Mesonephric adenocarcinoma of the cervix : Case report and literature review. Gynecol Oncol Rep 17 : 7-11, 2016.
PubMed
13) Martin SA, et al : Juxtaglomerular cell tumor : a clinicopathologic study of four cases and review of the literature. Am J Clin Pathol 116 : 854-863, 2001.
PubMed
14) Rubenstein JN, et al : Juxtaglomerular apparatus tumor : a rare, surgically correctable cause of hypertension. Rev Urol 4 : 192-195, 2002.
PubMed
14) Mirkovic J, et al : Targeted genomic profiling reveals recurrent KRAS mutations and gain of chromosome 1q in mesonephric carcinomas of the female genital tract. Mod Pathol 28 : 1504-1514, 2015.
PubMed
15) Duan X, et al : Metastatic juxtaglomerular cell tumor in a 52-year-old man. Am J Surg Pathol 28 : 1098-1102, 2004.
 
P.383 掲載の参考文献
1) Robertson PW, et al : Hypertension due to a renin-secreting renal tumour. Am J Med 43 : 963-976, 1967.
PubMed

書評

最近チェックした商品履歴

Loading...